ClinVar for Gene (Select 29916) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 3167134	NM_013323.3(SNX11):c.584C>T (p.Pro195Leu)	SNX11 (P195L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167133	NM_013323.3(SNX11):c.355G>C (p.Asp119His)	SNX11 (D111H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167132	NM_013323.3(SNX11):c.231G>A (p.Val77=)	SNX11	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3167131	NM_013323.3(SNX11):c.176G>A (p.Arg59His)	SNX11 (R51H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609327	NM_013323.3(SNX11):c.802T>G (p.Leu268Val)	SNX11 (L260V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546973	NM_013323.3(SNX11):c.644T>C (p.Val215Ala)	SNX11 (V215A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544233	NM_013323.3(SNX11):c.319C>T (p.Leu107Phe)	SNX11 (L107F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	CBX1, CDC27 +24 more	Copy number gain	PNPO-related disorder	GLikely pathogenic
Select item 2478884	NM_013323.3(SNX11):c.327G>C (p.Lys109Asn)	SNX11 (K109N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385107	NM_013323.3(SNX11):c.769G>A (p.Val257Met)	SNX11 (V257M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356027	NM_013323.3(SNX11):c.748G>C (p.Ala250Pro)	SNX11 (A242P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315793	NM_013323.3(SNX11):c.301C>G (p.Gln101Glu)	SNX11 (Q101E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287686	NM_013323.3(SNX11):c.379C>A (p.Gln127Lys)	SNX11 (Q127K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250063	NM_013323.3(SNX11):c.758G>A (p.Gly253Glu)	SNX11 (G245E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213129	NM_013323.3(SNX11):c.685C>T (p.Pro229Ser)	SNX11 (P229S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 154833	GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1	ABI3, ATP5MC1 +99 more	Copy number loss	See cases	GPathogenic
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 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: 23