ClinVar for Gene (Select 124783) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341110	GRCh37/hg19 17q21.31(chr17:42927777-43706954)x1	ACBD4, ARHGAP27 +16 more	Copy number loss	Hereditary syndromic Pierre Robin syndrome	GPathogenic
Select item 3321987	NM_152343.3(SPATA32):c.162G>A (p.Leu54=)	MAP3K14-AS1, SPATA32	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3321986	NM_152343.3(SPATA32):c.752C>T (p.Ala251Val)	MAP3K14-AS1, SPATA32 (A251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321985	NM_152343.3(SPATA32):c.229C>G (p.Leu77Val)	MAP3K14-AS1, SPATA32 (L77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321984	NM_152343.3(SPATA32):c.128A>G (p.Glu43Gly)	MAP3K14-AS1, SPATA32 (E43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321983	NM_152343.3(SPATA32):c.209C>T (p.Pro70Leu)	MAP3K14-AS1, SPATA32 (P70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3168607	NM_152343.3(SPATA32):c.478G>T (p.Ala160Ser)	MAP3K14-AS1, SPATA32 (A160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168606	NM_152343.3(SPATA32):c.466C>T (p.His156Tyr)	MAP3K14-AS1, SPATA32 (H156Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168605	NM_152343.3(SPATA32):c.403A>C (p.Ser135Arg)	MAP3K14-AS1, SPATA32 (S135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168604	NM_152343.3(SPATA32):c.275A>G (p.Asn92Ser)	MAP3K14-AS1, SPATA32 (N92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168602	NM_152343.3(SPATA32):c.167C>T (p.Pro56Leu)	MAP3K14-AS1, SPATA32 (P56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620739	NM_152343.3(SPATA32):c.377C>A (p.Pro126Gln)	MAP3K14-AS1, SPATA32 (P126Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2608525	NM_152343.3(SPATA32):c.776C>T (p.Pro259Leu)	MAP3K14-AS1, SPATA32 (P259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593223	NM_152343.3(SPATA32):c.334G>A (p.Val112Ile)	MAP3K14-AS1, SPATA32 (V112I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548487	NM_152343.3(SPATA32):c.278C>T (p.Ser93Leu)	MAP3K14-AS1, SPATA32 (S93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534715	NM_152343.3(SPATA32):c.559C>G (p.Pro187Ala)	MAP3K14-AS1, SPATA32 (P187A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455167	NM_152343.3(SPATA32):c.835C>T (p.Pro279Ser)	MAP3K14-AS1, SPATA32 (P279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399416	NM_152343.3(SPATA32):c.610G>A (p.Glu204Lys)	MAP3K14-AS1, SPATA32 (E204K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394303	NM_152343.3(SPATA32):c.199G>A (p.Gly67Arg)	MAP3K14-AS1, SPATA32 (G67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366204	NM_152343.3(SPATA32):c.808C>G (p.Gln270Glu)	MAP3K14-AS1, SPATA32 (Q270E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356450	NM_152343.3(SPATA32):c.50T>C (p.Val17Ala)	MAP3K14-AS1, SPATA32 (V17A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352355	NM_152343.3(SPATA32):c.401G>A (p.Arg134Gln)	MAP3K14-AS1, SPATA32 (R134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300855	NM_152343.3(SPATA32):c.969C>A (p.Asp323Glu)	MAP3K14-AS1, SPATA32 (D323E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2247957	NM_152343.3(SPATA32):c.294C>G (p.Asp98Glu)	MAP3K14-AS1, SPATA32 (D98E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243290	NM_152343.3(SPATA32):c.640T>A (p.Ser214Thr)	MAP3K14-AS1, SPATA32 (S214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242633	NM_152343.3(SPATA32):c.157G>C (p.Asp53His)	MAP3K14-AS1, SPATA32 (D53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230765	NM_152343.3(SPATA32):c.844A>G (p.Thr282Ala)	MAP3K14-AS1, SPATA32 (T282A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 442257	GRCh37/hg19 17q21.31(chr17:42649083-43659985)x3	ACBD4, ADAM11 +20 more	Copy number gain	See cases	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 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 59587	GRCh38/hg38 17q21.31(chr17:44928498-45299730)x1	ACBD4, C1QL1 +54 more	Copy number loss	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: 37