ClinVar for Gene (Select 9143) - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2545379	NM_004209.6(SYNGR3):c.56G>A (p.Ser19Asn)	LOC130058204, SYNGR3 (S19N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542976	NM_004209.6(SYNGR3):c.280C>A (p.Gln94Lys)	SYNGR3 (Q94K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542734	NM_004209.6(SYNGR3):c.166G>A (p.Glu56Lys)	SYNGR3 (E56K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514837	NM_004209.6(SYNGR3):c.499G>A (p.Ala167Thr)	SYNGR3 (A167T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2487931	NM_004209.6(SYNGR3):c.601G>A (p.Gly201Ser)	SYNGR3 (G201S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477149	NM_004209.6(SYNGR3):c.272G>T (p.Arg91Leu)	SYNGR3 (R91L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2423309	NC_000016.9:g.(?_2034220)_(2152787_?)del	GFER, MIR1225 +7 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2407559	NM_004209.6(SYNGR3):c.467C>T (p.Ser156Phe)	SYNGR3 (S156F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396232	NM_004209.6(SYNGR3):c.445G>A (p.Ala149Thr)	SYNGR3 (A149T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377158	NM_004209.6(SYNGR3):c.64C>T (p.Arg22Trp)	LOC130058204, SYNGR3 (R22W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324505	NM_004209.6(SYNGR3):c.250G>A (p.Ala84Thr)	SYNGR3 (A84T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278376	NM_004209.6(SYNGR3):c.218C>T (p.Ala73Val)	SYNGR3 (A73V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2234392	NM_004209.6(SYNGR3):c.18C>A (p.Phe6Leu)	LOC130058204, SYNGR3 (F6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1808105	GRCh37/hg19 16p13.3(chr16:2021144-2146432)x1	GFER, MIR1225 +9 more	Copy number loss	not provided	GPathogenic
Select item 1807728	GRCh37/hg19 16p13.3(chr16:2021144-2266791)x1	BRICD5, CASKIN1 +15 more	Copy number loss	not provided	GPathogenic
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 1459269	NC_000016.9:g.(?_2003468)_(2126543_?)del	GFER, NDUFB10 +12 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1455610	NC_000016.9:g.(?_2029297)_(2096295_?)del	GFER, NHERF2 +5 more	Deletion	not provided	GPathogenic
Select item 1455115	NC_000016.9:g.(?_2034220)_(2136892_?)del	GFER, NHERF2 +5 more	Deletion	Tuberous sclerosis 2	GPathogenic
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 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	EME2, FAHD1 +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980582	GRCh37/hg19 16p13.3(chr16:2011148-2161281)x3	GFER, MIR1225 +13 more	Copy number gain	not provided	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	BAIAP3, CACNA1H +45 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	ABCA3, ANTKMT +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	ANTKMT, BAIAP3 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 831814	NC_000016.10:g.(?_1523498)_(2064447_?)del	FAHD1, CRAMP1 +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	SYNGR3, UQCC4 +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	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	ABAT, ABCA3 +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)	ABAT, ABCA3 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 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)	ITGAM, NPIPA3 +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	LOC130058340, LOC130058341 +925 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	OR1F1, OR2C1 +916 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC130058195, LOC130058196 +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	RMI2, RNF151 +842 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	AXIN1, BAIAP3 +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 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	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 83