ARIH1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 58353	GRCh38/hg38 15q23-24.1(chr15:72058544-72481033)x3	ARIH1, CELF6 +33 more	Copy number gain	See cases	GUncertain significance
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147526	GRCh38/hg38 15q23-24.1(chr15:72366869-72671688)x1	ARIH1, GOLGA6B +15 more	Copy number loss	See cases	GUncertain significance
Select item 1659114	NM_005744.5(ARIH1):c.21C>T (p.Tyr7=)	ARIH1, LOC130057478	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 996563	NM_005744.5(ARIH1):c.43G>C (p.Glu15Gln)	ARIH1, LOC130057478 (E15Q)	Single nucleotide variant (missense variant)	Aortic aneurysm	Gassociation
Select item 1488407	NM_005744.5(ARIH1):c.44A>C (p.Glu15Ala)	ARIH1, LOC130057478 (E15A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895235	NM_005744.5(ARIH1):c.64_87del (p.Ser22_Asp29del)	ARIH1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1658666	NM_005744.5(ARIH1):c.57GGA[1] (p.Glu20del)	ARIH1 (E20del)	Microsatellite (inframe_deletion)	not provided	GBenign
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 2187764	NM_005744.5(ARIH1):c.69C>T (p.Gly23=)	ARIH1	Single nucleotide variant (synonymous 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 1556148	NM_005744.5(ARIH1):c.75GGA[3] (p.Glu28del)	ARIH1 (E28del)	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely 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 2289164	NM_005744.5(ARIH1):c.77A>T (p.Glu26Val)	ARIH1 (E26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1371679	NM_005744.5(ARIH1):c.77A>G (p.Glu26Gly)	ARIH1 (E26G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963397	NM_005744.5(ARIH1):c.83A>G (p.Glu28Gly)	ARIH1 (E28G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379147	NM_005744.5(ARIH1):c.84G>C (p.Glu28Asp)	ARIH1 (E28D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2795387	NM_005744.5(ARIH1):c.108C>A (p.Asp36Glu)	ARIH1 (D36E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954792	NM_005744.5(ARIH1):c.108C>T (p.Asp36=)	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 2994735	NM_005744.5(ARIH1):c.117C>T (p.Thr39=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943216	NM_005744.5(ARIH1):c.129C>A (p.Gly43=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 996699	NM_005744.5(ARIH1):c.131A>G (p.Glu44Gly)	ARIH1 (E44G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1588917	NM_005744.5(ARIH1):c.165C>T (p.Gly55=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1972227	NM_005744.5(ARIH1):c.169G>C (p.Glu57Gln)	ARIH1 (E57Q)	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 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 1586314	NM_005744.5(ARIH1):c.216C>T (p.Ser72=)	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 2999222	NM_005744.5(ARIH1):c.234_242dup (p.Gly90_Pro91insGlyGlyGly)	ARIH1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1427084	NM_005744.5(ARIH1):c.227C>T (p.Pro76Leu)	ARIH1 (P76L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429470	NM_005744.5(ARIH1):c.234_239dup (p.Gly89_Gly90dup)	ARIH1	Duplication (inframe_insertion)	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 1665014	NM_005744.5(ARIH1):c.231C>T (p.Gly77=)	ARIH1	Single nucleotide variant (synonymous 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 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 1494119	NM_005744.5(ARIH1):c.237CGG[11] (p.Gly87_Gly90dup)	ARIH1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1441835	NM_005744.5(ARIH1):c.237CGG[10] (p.Gly88_Gly90dup)	ARIH1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1349171	NM_005744.5(ARIH1):c.237CGG[9] (p.Gly89_Gly90dup)	ARIH1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 402394	NM_005744.5(ARIH1):c.237CGG[8] (p.Gly90dup)	ARIH1	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 2040876	NM_005744.5(ARIH1):c.237CGG[6] (p.Gly90del)	ARIH1 (G90del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1489071	NM_005744.5(ARIH1):c.237CGG[5] (p.Gly89_Gly90del)	ARIH1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1424076	NM_005744.5(ARIH1):c.237CGG[4] (p.Gly88_Gly90del)	ARIH1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1405259	NM_005744.5(ARIH1):c.237CGG[3] (p.Gly87_Gly90del)	ARIH1	Microsatellite (inframe_deletion)	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 2714925	NM_005744.5(ARIH1):c.249_260dup (p.Gly90_Pro91insGlyGlyGlyGly)	ARIH1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1504743	NM_005744.5(ARIH1):c.249_260del (p.Gly87_Gly90del)	ARIH1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1499817	NM_005744.5(ARIH1):c.252_260dup (p.Gly88_Gly90dup)	ARIH1	Duplication (inframe_insertion)	not provided	GUncertain significance
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 1371916	NM_005744.5(ARIH1):c.252_263del (p.Gly87_Gly90del)	ARIH1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1960724	NM_005744.5(ARIH1):c.255_263del (p.Gly88_Gly90del)	ARIH1	Deletion (inframe_deletion)	not provided	GUncertain significance
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 2971287	NM_005744.5(ARIH1):c.257_258insCGGTGG (p.Gly90_Pro91insGlyGly)	ARIH1	Insertion (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 1985902	NM_005744.5(ARIH1):c.257_258insCGGTGGTGG (p.Gly90_Pro91insGlyGlyGly)	ARIH1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1939164	NM_005744.5(ARIH1):c.258TGG[5] (p.Gly90_Pro91insGlyGly)	ARIH1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1901060	NM_005744.5(ARIH1):c.258TGG[1] (p.Gly89_Gly90del)	ARIH1	Microsatellite (inframe_deletion)	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 1663002	NM_005744.5(ARIH1):c.258T>C (p.Gly86=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1556084	NM_005744.5(ARIH1):c.258T>G (p.Gly86=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1380624	NM_005744.5(ARIH1):c.261_269dup (p.Gly88_Gly90dup)	ARIH1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1460248	NM_005744.5(ARIH1):c.261T>C (p.Gly87=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662444	NM_005744.5(ARIH1):c.264T>C (p.Gly88=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545590	NM_005744.5(ARIH1):c.267_269dup (p.Gly90dup)	ARIH1	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 3314897	NM_005744.5(ARIH1):c.265G>A (p.Gly89Ser)	ARIH1 (G89S)	Single nucleotide variant (missense variant)	not specified	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 2893788	NM_005744.5(ARIH1):c.271C>T (p.Pro91Ser)	ARIH1 (P91S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377552	NM_005744.5(ARIH1):c.285G>T (p.Gln95His)	ARIH1 (Q95H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498574	NM_005744.5(ARIH1):c.299G>A (p.Arg100His)	ARIH1 (R100H)	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 1944903	NM_005744.5(ARIH1):c.303C>T (p.Tyr101=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908768	NM_005744.5(ARIH1):c.312C>T (p.Leu104=)	ARIH1	Single nucleotide variant (synonymous 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 2527205	NM_005744.5(ARIH1):c.322C>G (p.Gln108Glu)	ARIH1 (Q108E)	Single nucleotide variant (missense variant)	not specified	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 1963214	NM_005744.5(ARIH1):c.333A>G (p.Gln111=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1538740	NM_005744.5(ARIH1):c.342G>A (p.Val114=)	ARIH1	Single nucleotide variant (synonymous 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 1591877	NM_005744.5(ARIH1):c.375+7G>A	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926204	NM_005744.5(ARIH1):c.375+12C>T	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 2768543	NM_005744.5(ARIH1):c.375+17C>A	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633630	NM_005744.5(ARIH1):c.375+19C>T	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630190	NM_005744.5(ARIH1):c.376-16T>C	ARIH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917605	NM_005744.5(ARIH1):c.376-12del	ARIH1	Deletion (intron variant)	not provided	GBenign
Select item 2005227	NM_005744.5(ARIH1):c.376-9C>G	ARIH1	Single nucleotide variant (intron 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 2576096	NM_005744.5(ARIH1):c.383C>G (p.Ala128Gly)	ARIH1 (A128G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921623	NM_005744.5(ARIH1):c.416A>G (p.Asn139Ser)	ARIH1 (N139S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991928	NM_005744.5(ARIH1):c.450T>C (p.Phe150=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	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 2993695	NM_005744.5(ARIH1):c.468G>A (p.Lys156=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885238	NM_005744.5(ARIH1):c.486T>C (p.His162=)	ARIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2479187	NM_005744.5(ARIH1):c.506A>G (p.Lys169Arg)	ARIH1 (K169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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