ClinVar for Gene (Select 6388) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158903	NM_006923.4(SDF2):c.32G>T (p.Gly11Val)	LOC126862525, SDF2 (G11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616139	NM_006923.4(SDF2):c.301C>G (p.Arg101Gly)	SDF2 (R101G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	RAB34, RPL23A +29 more	Duplication	not provided	GUncertain significance
Select item 2349043	NM_006923.4(SDF2):c.535A>G (p.Met179Val)	SDF2 (M179V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315265	NM_006923.4(SDF2):c.59G>C (p.Ser20Thr)	LOC126862525, SDF2 (S20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281855	NM_006923.4(SDF2):c.251C>A (p.Thr84Asn)	SDF2 (T84N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265235	NM_006923.4(SDF2):c.580A>G (p.Ile194Val)	SDF2 (I194V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260729	NM_006923.4(SDF2):c.245G>A (p.Arg82Lys)	SDF2 (R82K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign