667[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
Select item 58429	GRCh38/hg38 6p12.1(chr6:54263893-56826637)x1	BMP5, COL21A1 +18 more	Copy number loss	See cases	GPathogenic
Select item 144369	GRCh38/hg38 6p12.1-11.2(chr6:56312924-57306212)x1	BAG2, BEND6 +28 more	Copy number loss	See cases	GUncertain significance
Select item 1300301	NM_001374736.1(DST):c.*253C>A	DST	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 653511	NC_000006.11:g.(?_56323793)_(56507596_?)dup	DST, LOC129389544 +1 more	Duplication	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1058266	NM_001374736.1(DST):c.23438del (p.Asp7813fs)	DST (D5166fs +9 more)	Deletion (frameshift variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 971778	NM_001374736.1(DST):c.23437G>A (p.Asp7813Asn)	DST (D5166N +8 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1058146	NM_001374736.1(DST):c.23435T>G (p.Leu7812Trp)	DST (L5369W +9 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1138379	NM_001374736.1(DST):c.23433A>G (p.Lys7811=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 967605	NM_001374736.1(DST):c.23432A>G (p.Lys7811Arg)	DST (K5368R +8 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more	GUncertain significance
Select item 1958494	NM_001374736.1(DST):c.23428_23429delinsCC (p.Ser7810Pro)	DST (S5667P +9 more)	Indel (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1778282	NM_001374736.1(DST):c.23426C>A (p.Ala7809Asp)	DST (A5482D +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1443564	NM_001374736.1(DST):c.23425G>C (p.Ala7809Pro)	DST (A7452P +9 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1149854	NM_001374736.1(DST):c.23415G>A (p.Arg7805=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 1091770	NM_001374736.1(DST):c.23406G>A (p.Thr7802=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 970134	NM_001374736.1(DST):c.23405C>T (p.Thr7802Met)	DST (T7778M +8 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +3 more	GUncertain significance
Select item 617590	NM_001374736.1(DST):c.23402C>T (p.Pro7801Leu)	DST (P5154L +9 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6	GLikely pathogenic
Select item 1132510	NM_001374736.1(DST):c.23385G>A (p.Ala7795=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 1091115	NM_001374736.1(DST):c.23361A>G (p.Arg7787=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 1500400	NM_001374736.1(DST):c.23360G>A (p.Arg7787Gln)	DST (R5344Q +9 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GUncertain significance
Select item 1985497	NM_001374736.1(DST):c.23353A>T (p.Thr7785Ser)	DST (T5458S +9 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1778136	NM_001374736.1(DST):c.23348G>C (p.Arg7783Thr)	DST (R7426T +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1104362	NM_001374736.1(DST):c.23334C>G (p.Val7778=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 1354925	NM_001374736.1(DST):c.23321A>C (p.Asp7774Ala)	DST (D5447A +9 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1051434	NM_001374736.1(DST):c.23311G>A (p.Val7771Met)	DST (V5124M +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1119227	NM_001374736.1(DST):c.23310C>T (p.Ser7770=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 1937545	NM_001374736.1(DST):c.23306A>T (p.Gln7769Leu)	DST (Q7412L +9 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2157838	NM_001374736.1(DST):c.23304C>A (p.Ile7768=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 1449703	NM_001374736.1(DST):c.23264G>A (p.Arg7755His)	DST (R5108H +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1010154	NM_001374736.1(DST):c.23263C>T (p.Arg7755Cys)	DST (R5108C +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1663342	NM_001374736.1(DST):c.23250C>T (p.Ser7750=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 2929291	NM_001374736.1(DST):c.23247C>T (p.Gly7749=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1462829	NM_001374736.1(DST):c.23234G>A (p.Gly7745Glu)	DST (G5424E +9 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1928794	NM_001374736.1(DST):c.23229A>G (p.Arg7743=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 969571	NM_001374736.1(DST):c.23228G>A (p.Arg7743Gln)	DST (R5422Q +8 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GUncertain significance
Select item 1109250	NM_001374736.1(DST):c.23220A>T (p.Pro7740=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2499282	NM_001374736.1(DST):c.23216G>A (p.Arg7739Gln)	DST (R5092Q +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162987	NM_001374736.1(DST):c.23215C>T (p.Arg7739Ter)	DST (R5092* +9 more)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
Select item 970255	NM_001374736.1(DST):c.23205G>T (p.Lys7735Asn)	DST (K5592N +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 972095	NM_001374736.1(DST):c.23201A>T (p.Lys7734Met)	DST (K5413M +8 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 967054	NM_001374736.1(DST):c.23195A>T (p.Asp7732Val)	DST (D7717V +8 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1777788	NM_001374736.1(DST):c.23195-6C>T	DST	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1097539	NM_001374736.1(DST):c.23195-8T>C	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 1913443	NM_001374736.1(DST):c.23195-16T>C	DST	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1269151	NM_001374736.1(DST):c.23195-114T>C	DST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300343	NM_001374736.1(DST):c.23195-202A>G	DST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664076	NM_001374736.1(DST):c.23194+19T>A	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2153778	NM_001374736.1(DST):c.23194+5G>C	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2133995	NM_001374736.1(DST):c.23194+5G>A	DST	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1166337	NM_001374736.1(DST):c.23187G>A (p.Gln7729=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GBenign
Select item 1056887	NM_001374736.1(DST):c.23183C>T (p.Thr7728Ile)	DST (T5081I +9 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1473779	NM_001374736.1(DST):c.23173A>G (p.Arg7725Gly)	DST (R5582G +9 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2153716	NM_001374736.1(DST):c.23157A>G (p.Ile7719Met)	DST (I7695M +9 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1971364	NM_001374736.1(DST):c.23155A>T (p.Ile7719Leu)	DST (I7362L +9 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1777688	NM_001374736.1(DST):c.23146A>G (p.Ser7716Gly)	DST (S5435G +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1986734	NM_001374736.1(DST):c.23144A>G (p.Asp7715Gly)	DST (D5272G +9 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1512748	NM_001374736.1(DST):c.23141A>C (p.Glu7714Ala)	DST (E7690A +9 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2190728	NM_001374736.1(DST):c.23109A>T (p.Gly7703=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2153789	NM_001374736.1(DST):c.23099G>A (p.Arg7700Gln)	DST (R5257Q +9 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1099717	NM_001374736.1(DST):c.23094G>A (p.Lys7698=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 965471	NM_001374736.1(DST):c.23093A>G (p.Lys7698Arg)	DST (K5051R +8 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1043620	NM_001374736.1(DST):c.23090G>A (p.Ser7697Asn)	DST (S5254N +9 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1096682	NM_001374736.1(DST):c.23079A>G (p.Pro7693=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 1150139	NM_001374736.1(DST):c.23076G>A (p.Thr7692=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 1425148	NM_001374736.1(DST):c.23075C>T (p.Thr7692Met)	DST (T7335M +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1475352	NM_001374736.1(DST):c.23071-2A>G	DST	Single nucleotide variant (splice acceptor variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely pathogenic
Select item 1777537	NM_001374736.1(DST):c.23071-5dup	DST	Duplication (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1542838	NM_001374736.1(DST):c.23071-18G>A	DST	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 1301072	NM_001374736.1(DST):c.23070+334dup	DST	Duplication (intron variant)	not provided	GLikely benign
Select item 1300448	NM_001374736.1(DST):c.23070+145G>A	DST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542305	NM_001374736.1(DST):c.23070+7T>G	DST	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 1164480	NM_001374736.1(DST):c.23065G>A (p.Ala7689Thr)	DST (A5042T +7 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GBenign
Select item 1121617	NM_001374736.1(DST):c.23061A>T (p.Pro7687=)	DST	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 1777522	NM_001374736.1(DST):c.23060C>T (p.Pro7687Leu)	DST (P5366L +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1164482	NM_001374736.1(DST):c.23058G>A (p.Val7686=)	DST	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more	GBenign/Likely benign
Select item 648459	NM_001374736.1(DST):c.23056G>A (p.Val7686Met)	DST (V5039M +7 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 796232	NM_001374736.1(DST):c.23055C>T (p.Pro7685=)	DST	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 489327	NM_001374736.1(DST):c.23035G>T (p.Ala7679Ser)	DST (A5032S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1777405	NM_001374736.1(DST):c.23027G>A (p.Cys7676Tyr)	DST (C5355Y +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1669079	NM_001374736.1(DST):c.23025T>C (p.Pro7675=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 1087493	NM_001374736.1(DST):c.23022T>A (p.Thr7674=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 1425293	NM_001374736.1(DST):c.23016G>A (p.Met7672Ile)	DST (M5025I +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1039366	NM_001374736.1(DST):c.23015T>C (p.Met7672Thr)	DST (M5351T +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 964751	NM_001374736.1(DST):c.22997G>C (p.Trp7666Ser)	DST (W5345S +6 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1491462	NM_001374736.1(DST):c.22993C>G (p.Pro7665Ala)	DST (P5338A +7 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 965370	NM_001374736.1(DST):c.22987G>T (p.Gly7663Cys)	DST (G5382C +6 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2635728	NM_001374736.1(DST):c.22985A>G (p.Tyr7662Cys)	DST (Y5015C +7 more)	Single nucleotide variant (missense variant +1 more)	DST-related disorder	GUncertain significance
Select item 1445999	NM_001374736.1(DST):c.22982A>G (p.Asn7661Ser)	DST (N5334S +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 664617	NM_001374736.1(DST):c.22979G>A (p.Arg7660His)	DST (R5339H +7 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more	GUncertain significance
Select item 1427088	NM_001374736.1(DST):c.22978C>T (p.Arg7660Cys)	DST (R5013C +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2015660	NM_001374736.1(DST):c.22975A>T (p.Thr7659Ser)	DST (T5332S +7 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 972435	NM_001374736.1(DST):c.22964T>C (p.Leu7655Pro)	DST (L5334P +6 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1054875	NM_001374736.1(DST):c.22963C>T (p.Leu7655Phe)	DST (L5008F +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2941429	NM_001374736.1(DST):c.22960-2A>C	DST	Single nucleotide variant (splice acceptor variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely pathogenic
Select item 1598197	NM_001374736.1(DST):c.22960-8C>T	DST	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 1301070	NM_001374736.1(DST):c.22959+158G>A	DST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2153791	NM_001374736.1(DST):c.22959+18G>A	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1777287	NM_001374736.1(DST):c.22959+4A>G	DST	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance

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