ClinVar for Gene (Select 64711) - ClinVar

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Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284821	NM_001009606.4(HS3ST6):c.908A>G (p.Lys303Arg)	HS3ST6 (K303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284820	NM_001009606.4(HS3ST6):c.349C>T (p.Arg117Cys)	HS3ST6 (R117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284819	NM_001009606.4(HS3ST6):c.986G>T (p.Arg329Leu)	HS3ST6 (R329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284818	NM_001009606.4(HS3ST6):c.194C>G (p.Ser65Cys)	HS3ST6 (S65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284817	NM_001009606.4(HS3ST6):c.541C>T (p.Arg181Trp)	HS3ST6 (R181W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243525	NC_000016.9:g.(?_1822222)_(2550959_?)dup	ABCA3, BRICD5 +39 more	Duplication	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 3243466	NC_000016.9:g.(?_1607916)_(2130398_?)dup	CRAMP1, EME2 +27 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3107030	NM_001009606.4(HS3ST6):c.943G>T (p.Ala315Ser)	HS3ST6 (A315S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107029	NM_001009606.4(HS3ST6):c.862T>C (p.Cys288Arg)	HS3ST6 (C288R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107028	NM_001009606.4(HS3ST6):c.752G>C (p.Arg251Pro)	HS3ST6 (R251P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107027	NM_001009606.4(HS3ST6):c.750G>T (p.Glu250Asp)	HS3ST6 (E250D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107025	NM_001009606.4(HS3ST6):c.584T>C (p.Leu195Pro)	HS3ST6 (L195P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107023	NM_001009606.4(HS3ST6):c.230C>G (p.Pro77Arg)	HS3ST6 (P77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2664052	NM_001009606.4(HS3ST6):c.946C>G (p.Leu316Val)	HS3ST6 (L316V)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 8	GUncertain significance
Select item 2645951	NM_001009606.4(HS3ST6):c.516G>A (p.Pro172=)	HS3ST6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645950	NM_001009606.4(HS3ST6):c.768G>A (p.Pro256=)	HS3ST6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601575	NM_001009606.4(HS3ST6):c.254C>A (p.Pro85His)	HS3ST6 (P85H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600797	NM_001009606.4(HS3ST6):c.751C>T (p.Arg251Cys)	HS3ST6 (R251C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594273	NM_001009606.4(HS3ST6):c.844G>A (p.Ala282Thr)	HS3ST6 (A282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589929	NM_001009606.4(HS3ST6):c.494G>A (p.Arg165His)	HS3ST6 (R165H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539255	NM_001009606.4(HS3ST6):c.115C>T (p.Leu39Phe)	HS3ST6 (L39F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537929	NM_001009606.4(HS3ST6):c.496C>T (p.Arg166Cys)	HS3ST6 (R166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525522	NM_001009606.4(HS3ST6):c.497G>A (p.Arg166His)	HS3ST6 (R166H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523589	NM_001009606.4(HS3ST6):c.509T>C (p.Met170Thr)	HS3ST6 (M170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2481872	NM_001009606.4(HS3ST6):c.209C>G (p.Ser70Cys)	HS3ST6 (S70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478048	NM_001009606.4(HS3ST6):c.896G>A (p.Arg299His)	HS3ST6 (R299H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465508	NM_001009606.4(HS3ST6):c.757G>A (p.Val253Ile)	HS3ST6 (V253I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2410280	NM_001009606.4(HS3ST6):c.698A>C (p.Asp233Ala)	HS3ST6 (D233A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398781	NM_001009606.4(HS3ST6):c.410A>T (p.Tyr137Phe)	HS3ST6 (Y137F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398780	NM_001009606.4(HS3ST6):c.407G>T (p.Trp136Leu)	HS3ST6 (W136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395306	NM_001009606.4(HS3ST6):c.613C>T (p.Arg205Cys)	HS3ST6 (R205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365347	NM_001009606.4(HS3ST6):c.667G>A (p.Val223Ile)	HS3ST6 (V223I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363347	NM_001009606.4(HS3ST6):c.752G>A (p.Arg251His)	HS3ST6 (R251H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344399	NM_001009606.4(HS3ST6):c.616G>T (p.Ala206Ser)	HS3ST6 (A206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311690	NM_001009606.4(HS3ST6):c.617C>A (p.Ala206Asp)	HS3ST6 (A206D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301182	NM_001009606.4(HS3ST6):c.181G>A (p.Ala61Thr)	HS3ST6 (A61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300624	NM_001009606.4(HS3ST6):c.486G>T (p.Glu162Asp)	HS3ST6 (E162D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287666	NM_001009606.4(HS3ST6):c.869A>G (p.Lys290Arg)	HS3ST6 (K290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251878	NM_001009606.4(HS3ST6):c.568G>A (p.Asp190Asn)	HS3ST6 (D190N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234242	NM_001009606.4(HS3ST6):c.932G>A (p.Arg311His)	HS3ST6 (R311H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227789	NM_001009606.4(HS3ST6):c.616G>A (p.Ala206Thr)	HS3ST6 (A206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220568	NM_001009606.4(HS3ST6):c.263G>A (p.Arg88Gln)	HS3ST6 (R88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808520	GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3	ABCA3, AMDHD2 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1808452	GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3	BAIAP3, C1QTNF8 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1696839	NC_000016.10:g.1903155_2093402del	GFER, HS3ST6 +40 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1526483	GRCh37/hg19 16p13.3(chr16:1847662-2653144)	ABCA3, AMDHD2 +38 more	Copy number gain	not specified	GUncertain significance
Select item 1340286	GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3	ABCA3, AMDHD2 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1162308	NM_001009606.4(HS3ST6):c.430A>T (p.Thr144Ser)	HS3ST6 (T144S)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 8	GPathogenic
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	CCDC78, ANTKMT +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 978603	NC_000016.10:g.1851807_2093151del	GFER, HS3ST6 +43 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833445	NC_000016.9:g.(?_1203718)_(2185710_?)del	EME2, FAHD1 +45 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	IGFALS, MRPS34 +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	CCDC78, CHTF18 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 831814	NC_000016.10:g.(?_1523498)_(2064447_?)del	MAPK8IP3, MEIOB +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 689437	Single allele	CRAMP1, EME2 +28 more	Inversion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	ANTKMT, BAIAP3 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564257	GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1	BRICD5, CASKIN1 +34 more	Copy number loss	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253874	GRCh37/hg19 16p13.3(chr16:1860861-2070554)x3	MEIOB, FAHD1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 146395	GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3	GFER, HS3ST6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58604	GRCh38/hg38 16p13.3(chr16:1816283-2020966)x3	FAHD1, GFER +40 more	Copy number gain	See cases	GPathogenic
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 95