ASIC1[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 58211	GRCh38/hg38 12q13.12(chr12:49840075-50315208)x3	AQP2, AQP5 +43 more	Copy number gain	See cases	GUncertain significance
Select item 3130346	NM_001095.4(ASIC1):c.16G>C (p.Glu6Gln)	ASIC1 (E6Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332095	NM_001095.4(ASIC1):c.44C>G (p.Pro15Arg)	ASIC1 (P15R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516694	NM_001095.4(ASIC1):c.56A>C (p.Gln19Pro)	ASIC1 (Q19P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714537	NM_001095.4(ASIC1):c.78A>G (p.Thr26=)	ASIC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2297646	NM_001095.4(ASIC1):c.329A>C (p.His110Pro)	ASIC1 (H110P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274089	NM_001095.4(ASIC1):c.356A>G (p.Asn119Ser)	ASIC1 (N119S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 982934	NM_001095.4(ASIC1):c.363-2A>G	ASIC1	Single nucleotide variant (splice acceptor variant)	Seizure	GUncertain significance
Select item 2514744	NM_001095.4(ASIC1):c.497G>A (p.Arg166Gln)	ASIC1 (R166Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719748	NM_001095.4(ASIC1):c.558+3G>A	ASIC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2394787	NM_001095.4(ASIC1):c.641C>T (p.Thr214Met)	ASIC1 (T214M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783660	NM_001095.4(ASIC1):c.672C>T (p.Ile224=)	ASIC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2258991	NM_001095.4(ASIC1):c.836G>A (p.Arg279Gln)	ASIC1 (R310Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130348	NM_001095.4(ASIC1):c.937G>A (p.Asp313Asn)	ASIC1 (D104N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130349	NM_001095.4(ASIC1):c.947C>T (p.Thr316Met)	ASIC1 (T108M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253704	NM_001095.4(ASIC1):c.976C>T (p.Arg326Cys)	ASIC1 (R326C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338627	NM_001095.4(ASIC1):c.1165T>C (p.Tyr389His)	ASIC1 (Y389H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784239	NM_001095.4(ASIC1):c.1206-9C>T	ASIC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2492028	NM_001095.4(ASIC1):c.1297+33T>C	ASIC1 (C444R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779524	NM_001095.4(ASIC1):c.1297+37A>G	ASIC1 (H445R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2206977	NM_001095.4(ASIC1):c.1297+45G>A	ASIC1 (G448S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130345	NM_001095.4(ASIC1):c.1297+47C>T	ASIC1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2589037	NM_001095.4(ASIC1):c.1297+48G>T	ASIC1 (V449L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525676	NM_001095.4(ASIC1):c.1410A>C (p.Lys470Asn)	ASIC1 (K504N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620114	NM_001095.4(ASIC1):c.1413C>G (p.Cys471Trp)	ASIC1 (C502W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3027077	NM_001095.4(ASIC1):c.1448G>A (p.Gly483Asp)	ASIC1 (G274D +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2403082	NM_001095.4(ASIC1):c.1471G>A (p.Val491Ile)	ASIC1 (V537I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618235	NM_001095.4(ASIC1):c.1502G>A (p.Arg501Gln)	ASIC1 (R501Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130347	NM_001095.4(ASIC1):c.1565C>T (p.Thr522Met)	ASIC1 (T313M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 34