ClinVar for Gene (Select 101928809) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316776	NM_018115.4(SDAD1):c.110A>G (p.His37Arg)	SDAD1, SDAD1-AS1 (H37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316773	NM_018115.4(SDAD1):c.191C>T (p.Ala64Val)	SDAD1, SDAD1-AS1 (A64V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316771	NM_018115.4(SDAD1):c.263A>T (p.Asn88Ile)	SDAD1, SDAD1-AS1 (N88I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158862	NM_018115.4(SDAD1):c.41C>T (p.Pro14Leu)	SDAD1, SDAD1-AS1 (P14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079190	NM_002416.3(CXCL9):c.341G>A (p.Arg114Gln)	CXCL9, SDAD1-AS1 (R114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079188	NM_002416.3(CXCL9):c.311A>C (p.Lys104Thr)	CXCL9, SDAD1-AS1 (K104T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606224	NM_002416.3(CXCL9):c.290A>C (p.Lys97Thr)	CXCL9, SDAD1-AS1 (K97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604100	NM_002416.3(CXCL9):c.209G>C (p.Gly70Ala)	CXCL9, SDAD1-AS1 (G70A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547459	NM_002416.3(CXCL9):c.236C>T (p.Ser79Leu)	CXCL9, SDAD1-AS1 (S79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525553	NM_018115.4(SDAD1):c.21C>G (p.Asn7Lys)	SDAD1, SDAD1-AS1 (N7K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313733	NM_018115.4(SDAD1):c.201T>G (p.Ser67Arg)	SDAD1, SDAD1-AS1 (S67R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285774	NM_018115.4(SDAD1):c.106A>G (p.Asn36Asp)	SDAD1, SDAD1-AS1 (N36D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	PARM1-AS1, PCAT4 +330 more	Deletion	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 729521	NM_018115.4(SDAD1):c.96A>G (p.Leu32=)	SDAD1, SDAD1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 714479	NM_002416.3(CXCL9):c.375A>G (p.Thr125=)	CXCL9, SDAD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57365	GRCh38/hg38 4q21.1(chr4:75729757-76160423)x1	ART3, CXCL10 +16 more	Copy number loss	See cases	GUncertain significance
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 23