ClinVar for Gene (Select 85407) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299862	NM_033119.5(NKD1):c.515A>G (p.Asn172Ser)	NKD1 (N172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299861	NM_033119.5(NKD1):c.973A>G (p.Ile325Val)	NKD1 (I325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299860	NM_033119.5(NKD1):c.244G>A (p.Asp82Asn)	NKD1 (D82N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3200277	NM_033119.5(NKD1):c.968C>A (p.Thr323Asn)	NKD1 (T323N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200276	NM_033119.5(NKD1):c.696G>A (p.Arg232=)	NKD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3200275	NM_033119.5(NKD1):c.547G>T (p.Val183Leu)	NKD1 (V183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200274	NM_033119.5(NKD1):c.496G>T (p.Val166Leu)	NKD1 (V166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200273	NM_033119.5(NKD1):c.220A>G (p.Thr74Ala)	NKD1 (T74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200272	NM_033119.5(NKD1):c.205G>A (p.Asp69Asn)	NKD1 (D69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200271	NM_033119.5(NKD1):c.196C>T (p.Leu66Phe)	NKD1 (L66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200270	NM_033119.5(NKD1):c.1366C>T (p.His456Tyr)	NKD1 (H456Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200269	NM_033119.5(NKD1):c.1186C>A (p.Pro396Thr)	NKD1 (P396T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200268	NM_033119.5(NKD1):c.1163C>T (p.Pro388Leu)	NKD1 (P388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623795	NM_033119.5(NKD1):c.41G>A (p.Arg14His)	NKD1 (R14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623324	NM_033119.5(NKD1):c.976G>A (p.Ala326Thr)	NKD1 (A326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615889	NM_033119.5(NKD1):c.931C>G (p.Gln311Glu)	NKD1 (Q311E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603468	NM_033119.5(NKD1):c.886C>T (p.Arg296Cys)	NKD1 (R296C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595832	NM_033119.5(NKD1):c.862C>T (p.Arg288Cys)	NKD1 (R288C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595463	NM_033119.5(NKD1):c.403C>T (p.Arg135Trp)	NKD1 (R135W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591766	NM_033119.5(NKD1):c.344C>A (p.Ser115Tyr)	NKD1 (S115Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522487	NM_033119.5(NKD1):c.899C>T (p.Pro300Leu)	NKD1 (P300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522138	NM_033119.5(NKD1):c.221C>A (p.Thr74Lys)	NKD1 (T74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517109	NM_033119.5(NKD1):c.592G>A (p.Val198Ile)	NKD1 (V198I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513916	NM_033119.5(NKD1):c.956A>G (p.His319Arg)	NKD1 (H319R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481498	NM_033119.5(NKD1):c.857C>A (p.Pro286His)	NKD1 (P286H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462718	NM_033119.5(NKD1):c.602A>G (p.Asn201Ser)	NKD1 (N201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458407	NM_033119.5(NKD1):c.971C>A (p.Pro324Gln)	NKD1 (P324Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426049	NC_000016.9:g.(?_49525186)_(51631253_?)dup	ADCY7, BRD7 +9 more	Duplication	Nephronophthisis 14	GUncertain significance
Select item 2426048	NC_000016.9:g.(?_49525186)_(51631253_?)del	ADCY7, BRD7 +9 more	Deletion	Townes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2409139	NM_033119.5(NKD1):c.1007G>A (p.Arg336Gln)	NKD1 (R336Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400248	NM_033119.5(NKD1):c.1130C>T (p.Ala377Val)	NKD1 (A377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393445	NM_033119.5(NKD1):c.544C>T (p.Arg182Trp)	NKD1 (R182W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391103	NM_033119.5(NKD1):c.672G>T (p.Glu224Asp)	NKD1 (E224D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387757	NM_033119.5(NKD1):c.534C>G (p.Ser178Arg)	NKD1 (S178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372349	NM_033119.5(NKD1):c.1081G>A (p.Val361Met)	NKD1 (V361M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356265	NM_033119.5(NKD1):c.382G>A (p.Val128Met)	NKD1 (V128M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355465	NM_033119.5(NKD1):c.571G>C (p.Gly191Arg)	NKD1 (G191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342953	NM_033119.5(NKD1):c.745G>A (p.Val249Ile)	NKD1 (V249I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282379	NM_033119.5(NKD1):c.1045C>T (p.Pro349Ser)	NKD1 (P349S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267418	NM_033119.5(NKD1):c.1321T>A (p.Tyr441Asn)	NKD1 (Y441N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260473	NM_033119.5(NKD1):c.85T>C (p.Trp29Arg)	NKD1 (W29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209366	NM_033119.5(NKD1):c.1286G>A (p.Arg429Gln)	NKD1 (R429Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1707624	GRCh37/hg19 16q12.1(chr16:50093691-51651454)x1	ADCY7, SNX20 +7 more	Copy number loss	Syndromic anorectal malformation	Gassociation
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1184380	Single allele	CFAP20, LOC101927556 +520 more	Duplication	not provided	GPathogenic
Select item 783740	NM_033119.5(NKD1):c.1080C>T (p.His360=)	NKD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713146	NM_033119.5(NKD1):c.611-9C>T	NKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442863	GRCh37/hg19 16q11.2-12.1(chr16:46737110-51838691)x1	ABCC11, ABCC12 +23 more	Copy number loss	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221522	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1	LINC03064, LOC101927272 +172 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 148654	GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1	ADCY7, BRD7 +136 more	Copy number loss	See cases	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +211 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	CNEP1R1, CYLD +210 more	Copy number gain	See cases	GPathogenic
Select item 59489	GRCh38/hg38 16q12.1(chr16:49740807-51876620)x1	ADCY7, BRD7 +97 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +211 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	LOC130058939, LOC130058940 +210 more	Copy number loss	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +203 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	C16orf78, HNRNPA1L3 +205 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 68