HAGH[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 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 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	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 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 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 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 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 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 152596	GRCh38/hg38 16p13.3(chr16:1754785-1816283)x1	EME2, HAGH +19 more	Copy number loss	See cases	GBenign
Select item 3104151	NM_005326.6(HAGH):c.920G>A (p.Arg307Gln)	HAGH (R259Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551912	NM_005326.6(HAGH):c.850G>A (p.Ala284Thr)	HAGH (A236T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283424	NM_005326.6(HAGH):c.784A>G (p.Thr262Ala)	HAGH (T214A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393519	NM_005326.6(HAGH):c.763G>A (p.Gly255Arg)	HAGH (G207R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481871	NM_005326.6(HAGH):c.754T>A (p.Tyr252Asn)	HAGH (Y252N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58604	GRCh38/hg38 16p13.3(chr16:1816283-2020966)x3	FAHD1, GFER +40 more	Copy number gain	See cases	GPathogenic
Select item 2343781	NM_005326.6(HAGH):c.724C>T (p.Arg242Trp)	HAGH (R242W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104149	NM_005326.6(HAGH):c.713A>G (p.Asn238Ser)	HAGH (M202V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320581	NM_005326.6(HAGH):c.700G>A (p.Val234Met)	HAGH (V234M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358246	NM_005326.6(HAGH):c.695G>A (p.Arg232His)	HAGH (A196T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104148	NM_005326.6(HAGH):c.655T>C (p.Cys219Arg)	HAGH (C171R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294411	NM_005326.6(HAGH):c.560C>T (p.Ala187Val)	HAGH (A139V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312053	NM_005326.6(HAGH):c.467C>A (p.Pro156Gln)	HAGH (P156Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283423	NM_005326.6(HAGH):c.466C>T (p.Pro156Ser)	HAGH (P108S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104146	NM_005326.6(HAGH):c.448G>A (p.Val150Ile)	HAGH (V102I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617272	NM_005326.6(HAGH):c.431A>C (p.Gln144Pro)	HAGH (Q96P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619534	NM_005326.6(HAGH):c.409A>G (p.Ile137Val)	HAGH (I89V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457206	NM_005326.6(HAGH):c.274G>A (p.Gly92Arg)	HAGH (G92R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336210	NM_005326.6(HAGH):c.259G>A (p.Ala87Thr)	HAGH (A39T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317440	NM_005326.6(HAGH):c.202G>C (p.Asp68His)	HAGH (D20H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295364	NM_005326.6(HAGH):c.136G>A (p.Glu46Lys)	HAGH (E46K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3283421	NM_005326.6(HAGH):c.130G>A (p.Val44Met)	HAGH (V44M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3104145	NM_005326.6(HAGH):c.119A>G (p.Lys40Arg)	HAGH (K40R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2248063	NM_005326.6(HAGH):c.88C>G (p.Leu30Val)	HAGH (L30V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3104147	NM_005326.6(HAGH):c.44C>T (p.Ala15Val)	HAGH, LOC130058193 (A15V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3283422	NM_005326.6(HAGH):c.36C>G (p.Ser12Arg)	HAGH, LOC130058193 (S12R)	Single nucleotide variant (5 prime UTR variant +1 more)	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 2684773	GRCh37/hg19 16p13.3(chr16:1505227-1960381)x3	CLCN7, CRAMP1 +15 more	Copy number gain	not provided	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 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	C1QTNF8, CACNA1H +67 more	Deletion	not provided	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 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 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 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 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 685169	GRCh37/hg19 16p13.3(chr16:1727095-1947413)x3	CRAMP1, EME2 +10 more	Copy number gain	not provided	GUncertain significance
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 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 more	Copy number loss	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

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Items: 81