ClinVar for Gene (Select 25820) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3037705	NM_005744.5(ARIH1):c.255C>T (p.Gly85=)	ARIH1	Single nucleotide variant (synonymous variant)	ARIH1-related disorder	GLikely benign
Select item 3003092	NM_005744.5(ARIH1):c.460C>G (p.Leu154Val)	ARIH1 (L154V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002549	NM_005744.5(ARIH1):c.240_263del (p.Gly83_Gly90del)	ARIH1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3002276	NM_005744.5(ARIH1):c.990C>T (p.Asp330=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999222	NM_005744.5(ARIH1):c.234_242dup (p.Gly90_Pro91insGlyGlyGly)	ARIH1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2998560	NM_005744.5(ARIH1):c.1552C>T (p.Leu518=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998003	NM_005744.5(ARIH1):c.748A>C (p.Thr250Pro)	ARIH1 (T250P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995753	NM_005744.5(ARIH1):c.1495G>C (p.Glu499Gln)	ARIH1 (E499Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994735	NM_005744.5(ARIH1):c.117C>T (p.Thr39=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993695	NM_005744.5(ARIH1):c.468G>A (p.Lys156=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991928	NM_005744.5(ARIH1):c.450T>C (p.Phe150=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991304	NM_005744.5(ARIH1):c.77A>C (p.Glu26Ala)	ARIH1 (E26A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990552	NM_005744.5(ARIH1):c.651T>C (p.Thr217=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983419	NM_005744.5(ARIH1):c.589-19T>A	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980916	NM_005744.5(ARIH1):c.318C>T (p.Ala106=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979141	NM_005744.5(ARIH1):c.954+10_954+13del	ARIH1	Deletion (intron variant)	not provided	GLikely benign
Select item 2973904	NM_005744.5(ARIH1):c.955-18G>T	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972501	NM_005744.5(ARIH1):c.681+16T>C	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971287	NM_005744.5(ARIH1):c.257_258insCGGTGG (p.Gly90_Pro91insGlyGly)	ARIH1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2963427	NM_005744.5(ARIH1):c.682-15T>A	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958558	NM_005744.5(ARIH1):c.232G>A (p.Gly78Ser)	ARIH1 (G78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908768	NM_005744.5(ARIH1):c.312C>T (p.Leu104=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898017	NM_005744.5(ARIH1):c.681+10T>C	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895235	NM_005744.5(ARIH1):c.64_87del (p.Ser22_Asp29del)	ARIH1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2894042	NM_005744.5(ARIH1):c.912-9A>C	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893788	NM_005744.5(ARIH1):c.271C>T (p.Pro91Ser)	ARIH1 (P91S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889226	NM_005744.5(ARIH1):c.661A>G (p.Met221Val)	ARIH1 (M221V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885238	NM_005744.5(ARIH1):c.486T>C (p.His162=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875606	NM_005744.5(ARIH1):c.191G>C (p.Gly64Ala)	ARIH1 (G64A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871676	NM_005744.5(ARIH1):c.210C>G (p.Gly70=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871073	NM_005744.5(ARIH1):c.60G>C (p.Glu20Asp)	ARIH1 (E20D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869054	NM_005744.5(ARIH1):c.571T>G (p.Leu191Val)	ARIH1 (L191V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2864264	NM_005744.5(ARIH1):c.1609A>C (p.Arg537=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863471	NM_005744.5(ARIH1):c.1125T>C (p.Cys375=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862152	NM_005744.5(ARIH1):c.1134A>G (p.Pro378=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850920	NM_005744.5(ARIH1):c.1134A>C (p.Pro378=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849223	NM_005744.5(ARIH1):c.955-20C>A	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826353	NM_005744.5(ARIH1):c.106G>T (p.Asp36Tyr)	ARIH1 (D36Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824232	NM_005744.5(ARIH1):c.328C>G (p.Leu110Val)	ARIH1 (L110V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812235	NM_005744.5(ARIH1):c.912-8C>A	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807752	NM_005744.5(ARIH1):c.1215+15A>G	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805970	NM_005744.5(ARIH1):c.158G>A (p.Gly53Asp)	ARIH1 (G53D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803626	NM_005744.5(ARIH1):c.190G>A (p.Gly64Arg)	ARIH1 (G64R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795387	NM_005744.5(ARIH1):c.108C>A (p.Asp36Glu)	ARIH1 (D36E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794831	NM_005744.5(ARIH1):c.1215+10T>C	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790090	NM_005744.5(ARIH1):c.375+13G>A	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789986	NM_005744.5(ARIH1):c.1416C>T (p.Leu472=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779552	NM_005744.5(ARIH1):c.376-7T>G	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779257	NM_005744.5(ARIH1):c.584A>C (p.Asn195Thr)	ARIH1 (N195T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769771	NM_005744.5(ARIH1):c.510T>C (p.Ser170=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768543	NM_005744.5(ARIH1):c.375+17C>A	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756990	NM_005744.5(ARIH1):c.646T>C (p.Leu216=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749791	NM_005744.5(ARIH1):c.681+17G>A	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727398	NM_005744.5(ARIH1):c.1239G>A (p.Arg413=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714925	NM_005744.5(ARIH1):c.249_260dup (p.Gly90_Pro91insGlyGlyGlyGly)	ARIH1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2709029	NM_005744.5(ARIH1):c.267C>T (p.Gly89=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708726	NM_005744.5(ARIH1):c.1661A>G (p.Tyr554Cys)	ARIH1 (Y554C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708402	NM_005744.5(ARIH1):c.971T>C (p.Ile324Thr)	ARIH1 (I324T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691086	NM_005744.5(ARIH1):c.234T>G (p.Gly78=)	ARIH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2685523	GRCh37/hg19 15q23-24.1(chr15:72592846-72826183)x1	ARIH1, CELF6 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2608253	NM_005744.5(ARIH1):c.1660T>G (p.Tyr554Asp)	ARIH1 (Y554D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576096	NM_005744.5(ARIH1):c.383C>G (p.Ala128Gly)	ARIH1 (A128G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2527205	NM_005744.5(ARIH1):c.322C>G (p.Gln108Glu)	ARIH1 (Q108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	BLM, BNC1 +209 more	Copy number gain	not provided	GPathogenic
Select item 2479187	NM_005744.5(ARIH1):c.506A>G (p.Lys169Arg)	ARIH1 (K169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425410	NC_000015.9:g.(?_72847592)_(72875633_?)dup	ARIH1	Duplication	not provided	GUncertain significance
Select item 2425358	NC_000015.9:g.(?_72847592)_(73660611_?)dup	ADPGK, ARIH1 +4 more	Duplication	Brugada syndrome 8	GUncertain significance
Select item 2423198	NC_000015.9:g.(?_72636418)_(73660611_?)dup	ADPGK, ARIH1 +6 more	Duplication	Tay-Sachs disease	GUncertain significance
Select item 2417526	NM_005744.5(ARIH1):c.846C>T (p.His282=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414185	NM_005744.5(ARIH1):c.1005T>C (p.Asn335=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2336698	NM_005744.5(ARIH1):c.217G>C (p.Ala73Pro)	ARIH1 (A73P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289164	NM_005744.5(ARIH1):c.77A>T (p.Glu26Val)	ARIH1 (E26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2194398	NM_005744.5(ARIH1):c.625A>G (p.Met209Val)	ARIH1 (M209V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187764	NM_005744.5(ARIH1):c.69C>T (p.Gly23=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183151	NM_005744.5(ARIH1):c.250G>A (p.Gly84Ser)	ARIH1 (G84S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178172	NM_005744.5(ARIH1):c.300C>G (p.Arg100=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176422	NM_005744.5(ARIH1):c.116C>T (p.Thr39Ile)	ARIH1 (T39I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172180	NM_005744.5(ARIH1):c.1531C>A (p.Arg511=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170408	NM_005744.5(ARIH1):c.538T>A (p.Ser180Thr)	ARIH1 (S180T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166411	NM_005744.5(ARIH1):c.1044T>C (p.His348=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159927	NM_005744.5(ARIH1):c.681+7A>G	ARIH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2147794	NM_005744.5(ARIH1):c.257G>T (p.Gly86Val)	ARIH1 (G86V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125527	NM_005744.5(ARIH1):c.1590-17_1590-9del	ARIH1	Deletion (intron variant)	not provided	GLikely benign
Select item 2110557	NM_005744.5(ARIH1):c.1230C>T (p.Ala410=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101997	NM_005744.5(ARIH1):c.955-18G>C	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101722	NM_005744.5(ARIH1):c.804+10T>A	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101488	NM_005744.5(ARIH1):c.805-15T>C	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2083032	NM_005744.5(ARIH1):c.366G>A (p.Glu122=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071748	NM_005744.5(ARIH1):c.1215+19G>A	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2066605	NM_005744.5(ARIH1):c.1589+13dup	ARIH1	Duplication (intron variant)	not provided	GBenign
Select item 2064119	NM_005744.5(ARIH1):c.1590-20T>C	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2060520	NM_005744.5(ARIH1):c.75GGA[5] (p.Glu28_Asp29insGlu)	ARIH1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2056812	NM_005744.5(ARIH1):c.258TGG[4] (p.Gly90_Pro91insGly)	ARIH1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2049924	NM_005744.5(ARIH1):c.1215+9A>G	ARIH1	Single nucleotide variant (intron variant)	ARIH1-related disorder +1 more	GBenign/Likely benign
Select item 2040876	NM_005744.5(ARIH1):c.237CGG[6] (p.Gly90del)	ARIH1 (G90del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2036894	NM_005744.5(ARIH1):c.1132C>T (p.Pro378Ser)	ARIH1 (P378S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033983	NM_005744.5(ARIH1):c.229G>A (p.Gly77Ser)	ARIH1 (G77S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2029943	NM_005744.5(ARIH1):c.1589+5T>A	ARIH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2011534	NM_005744.5(ARIH1):c.805-4T>A	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2005227	NM_005744.5(ARIH1):c.376-9C>G	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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