"GeneDx"[submitter] AND "LOC130062899"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 60067	GRCh38/hg38 19p13.3(chr19:1156372-1228333)x1	CBARP, LOC108254692 +21 more	Copy number loss	See cases	GPathogenic
Select item 182889	NM_000455.5(STK11):c.984C>G (p.Thr328=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 527850	NM_000455.5(STK11):c.987G>A (p.Lys329=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 141962	NM_000455.5(STK11):c.992G>A (p.Arg331Gln)	LOC130062899, STK11 (R331Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 921581	NM_000455.5(STK11):c.997C>T (p.Arg333Cys)	LOC130062899, STK11 (R333C)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 142148	NM_000455.5(STK11):c.998G>A (p.Arg333His)	LOC130062899, STK11 (R333H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 382158	NM_000455.5(STK11):c.1002C>T (p.Ser334=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +2 more	GConflicting classifications of pathogenicity
Select item 237785	NM_000455.5(STK11):c.1008T>C (p.Thr336=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 142198	NM_000455.5(STK11):c.1012G>A (p.Val338Met)	LOC130062899, STK11 (V338M)	Single nucleotide variant (missense variant)	Carcinoma of pancreas +6 more	GConflicting classifications of pathogenicity
Select item 629005	NM_000455.5(STK11):c.1013T>C (p.Val338Ala)	LOC130062899, STK11 (V338A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 186311	NM_000455.5(STK11):c.1015C>G (p.Pro339Ala)	LOC130062899, STK11 (P339A)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +4 more	GUncertain significance
Select item 142696	NM_000455.5(STK11):c.1016C>T (p.Pro339Leu)	LOC130062899, STK11 (P339L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 233233	NM_000455.5(STK11):c.1017G>A (p.Pro339=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 185804	NM_000455.5(STK11):c.1020C>T (p.Tyr340=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 140986	NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)	LOC130062899, STK11 (D343N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 219493	NM_000455.5(STK11):c.1031T>C (p.Leu344Pro)	LOC130062899, STK11 (L344P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 386202	NM_000455.5(STK11):c.1032G>A (p.Leu344=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 141886	NM_000455.5(STK11):c.1036G>A (p.Gly346Ser)	LOC130062899, STK11 (G346S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 184026	NM_000455.5(STK11):c.1038C>T (p.Gly346=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 141089	NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)	LOC130062899, STK11 (A347T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 578037	NM_000455.5(STK11):c.1040C>T (p.Ala347Val)	LOC130062899, STK11 (A347V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 422813	NM_000455.5(STK11):c.1045GAGGAC[3] (p.349ED[3])	LOC130062899, STK11	Microsatellite (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 141851	NM_000455.5(STK11):c.1040C>G (p.Ala347Gly)	LOC130062899, STK11 (A347G)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +2 more	GUncertain significance
Select item 403761	NM_000455.5(STK11):c.1045GAGGAC[1] (p.349ED[1])	LOC130062899, STK11	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 184691	NM_000455.5(STK11):c.1041G>A (p.Ala347=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 185970	NM_000455.5(STK11):c.1044C>T (p.Asp348=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GLikely benign
Select item 127697	NM_000455.5(STK11):c.1045G>A (p.Glu349Lys)	LOC130062899, STK11 (E349K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 184376	NM_000455.5(STK11):c.1050C>T (p.Asp350=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 484997	NM_000455.5(STK11):c.1051G>A (p.Glu351Lys)	LOC130062899, STK11 (E351K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 184837	NM_000455.5(STK11):c.1062C>T (p.Phe354=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +2 more	GBenign/Likely benign
Select item 7461	NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)	LOC130062899, STK11 (F354L)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +7 more	GBenign/Likely benign
Select item 412547	NM_000455.5(STK11):c.1068C>T (p.Ile356=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 198732	NM_000455.5(STK11):c.1069G>A (p.Glu357Lys)	LOC130062899, STK11 (E357K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 412537	NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)	LOC130062899, STK11 (E357D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 419166	NM_000455.5(STK11):c.1087A>G (p.Thr363Ala)	LOC130062899, STK11 (T363A)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +2 more	GUncertain significance
Select item 135277	NM_000455.5(STK11):c.1088C>T (p.Thr363Ile)	LOC130062899, STK11 (T363I)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +2 more	GConflicting classifications of pathogenicity
Select item 142939	NM_000455.5(STK11):c.1100C>T (p.Thr367Met)	LOC130062899, STK11 (T367M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 185935	NM_000455.5(STK11):c.1101G>A (p.Thr367=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +3 more	GBenign/Likely benign
Select item 486520	NM_000455.5(STK11):c.1102G>A (p.Val368Met)	LOC130062899, STK11 (V368M)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +2 more	GUncertain significance
Select item 237786	NM_000455.5(STK11):c.1107C>T (p.Pro369=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +2 more	GLikely benign
Select item 237787	NM_000455.5(STK11):c.1108+3G>A	LOC130062899, STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 492512	NM_000455.5(STK11):c.1108+11C>T	LOC130062899, STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome +2 more	GLikely benign
Select item 383184	NM_000455.5(STK11):c.1108+12G>A	LOC130062899, STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome +1 more	GLikely benign
Select item 389973	NM_000455.5(STK11):c.1108+14G>A	LOC130062899, STK11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 384195	NM_000455.5(STK11):c.1108+16G>A	LOC130062899, STK11	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 509327	NM_000455.5(STK11):c.1108+18C>G	LOC130062899, STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 383954	NM_000455.5(STK11):c.1108+19C>T	LOC130062899, STK11	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 49