ClinVar for Gene (Select 3487) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3108614	NM_001552.3(IGFBP4):c.550C>T (p.Arg184Trp)	IGFBP4 (R184W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108612	NM_001552.3(IGFBP4):c.371C>G (p.Pro124Arg)	IGFBP4 (P124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108611	NM_001552.3(IGFBP4):c.133G>C (p.Glu45Gln)	IGFBP4 (E45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108610	NM_001552.3(IGFBP4):c.124G>T (p.Val42Leu)	IGFBP4 (V42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684849	GRCh37/hg19 17q21.1-21.2(chr17:38390996-38689619)x3	CDC6, GJD3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2647741	NM_001552.3(IGFBP4):c.500G>A (p.Arg167Gln)	IGFBP4 (R167Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647740	NM_001552.3(IGFBP4):c.375C>T (p.Asn125=)	IGFBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2595825	NM_001552.3(IGFBP4):c.422A>G (p.Lys141Arg)	IGFBP4 (K141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476089	NM_001552.3(IGFBP4):c.335G>C (p.Ser112Thr)	IGFBP4 (S112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367604	NM_001552.3(IGFBP4):c.542C>T (p.Ala181Val)	IGFBP4 (A181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218782	NM_001552.3(IGFBP4):c.118C>T (p.Pro40Ser)	IGFBP4 (P40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710464	NM_001552.3(IGFBP4):c.357C>T (p.Asp119=)	IGFBP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 443255	GRCh37/hg19 17q21.2(chr17:38543535-38785943)x3	CCR7, IGFBP4 +3 more	Copy number gain	See cases	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 402159	NM_001552.3(IGFBP4):c.698C>T (p.Thr233Met)	IGFBP4 (T233M)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 21