ClinVar for Gene (Select 60685) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3192854	NM_021943.3(ZFAND3):c.488A>G (p.Lys163Arg)	ZFAND3 (K163R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192853	NM_021943.3(ZFAND3):c.425G>A (p.Arg142Gln)	ZFAND3 (R120Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192852	NM_021943.3(ZFAND3):c.287A>G (p.Lys96Arg)	ZFAND3 (K96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192851	NM_021943.3(ZFAND3):c.257C>T (p.Pro86Leu)	ZFAND3 (P86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062895	GRCh37/hg19 6p21.2(chr6:37160048-38287691)x3	BTBD9, CCDC167 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2495925	NM_021943.3(ZFAND3):c.391G>A (p.Val131Ile)	ZFAND3 (V109I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468663	NM_021943.3(ZFAND3):c.136G>A (p.Asp46Asn)	ZFAND3 (D46N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396973	NM_021943.3(ZFAND3):c.37A>T (p.Ser13Cys)	ZFAND3 (S13C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246360	NM_021943.3(ZFAND3):c.11C>A (p.Ala4Asp)	ZFAND3 (A4D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241373	NM_021943.3(ZFAND3):c.188A>G (p.Glu63Gly)	ZFAND3 (E63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340999	GRCh37/hg19 6p21.2(chr6:37485973-38275476)x3	BTBD9, MDGA1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 563173	GRCh37/hg19 6p21.2(chr6:37684241-37951820)x3	ZFAND3	Copy number gain	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 148108	GRCh38/hg38 6p21.2(chr6:38081809-38634288)x1	BTBD9, BTBD9-AS1 +3 more	Copy number loss	See cases	GBenign
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 20