ClinVar for Gene (Select 54873) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304148	NM_017734.5(PALMD):c.805C>T (p.Pro269Ser)	PALMD (P269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304147	NM_017734.5(PALMD):c.887T>C (p.Ile296Thr)	PALMD (I296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304146	NM_017734.5(PALMD):c.667A>G (p.Asn223Asp)	PALMD (N223D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304145	NM_017734.5(PALMD):c.134C>T (p.Ala45Val)	PALMD (A45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208225	NM_017734.5(PALMD):c.997A>T (p.Ile333Phe)	PALMD (I333F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208224	NM_017734.5(PALMD):c.962G>T (p.Ser321Ile)	PALMD (S321I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208223	NM_017734.5(PALMD):c.557C>T (p.Thr186Ile)	PALMD (T186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208222	NM_017734.5(PALMD):c.526A>T (p.Met176Leu)	PALMD (M176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208221	NM_017734.5(PALMD):c.320T>C (p.Leu107Ser)	PALMD (L107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208220	NM_017734.5(PALMD):c.1562C>T (p.Pro521Leu)	PALMD (P521L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208219	NM_017734.5(PALMD):c.1510A>G (p.Ile504Val)	PALMD (I504V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208218	NM_017734.5(PALMD):c.1378A>C (p.Lys460Gln)	PALMD (K460Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208217	NM_017734.5(PALMD):c.1360G>T (p.Asp454Tyr)	PALMD (D454Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208216	NM_017734.5(PALMD):c.1352A>C (p.Glu451Ala)	PALMD (E451A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208215	NM_017734.5(PALMD):c.1347T>G (p.Asp449Glu)	PALMD (D449E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208214	NM_017734.5(PALMD):c.1198G>A (p.Val400Ile)	PALMD (V400I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208213	NM_017734.5(PALMD):c.1168G>A (p.Glu390Lys)	PALMD (E390K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685813	GRCh37/hg19 1p21.2(chr1:99854049-100524271)x3	AGL, FRRS1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2685521	GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1	AGL, AMY1A +23 more	Copy number loss	not provided	GUncertain significance
Select item 2621928	NM_017734.5(PALMD):c.1061C>G (p.Ser354Trp)	PALMD (S354W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619813	NM_017734.5(PALMD):c.1628T>C (p.Met543Thr)	PALMD (M543T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609679	NM_017734.5(PALMD):c.857G>A (p.Arg286Lys)	PALMD (R286K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602227	NM_017734.5(PALMD):c.833C>A (p.Thr278Asn)	PALMD (T278N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599484	NM_017734.5(PALMD):c.1268C>T (p.Ala423Val)	PALMD (A423V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594797	NM_017734.5(PALMD):c.1316T>A (p.Ile439Asn)	PALMD (I439N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591347	NM_017734.5(PALMD):c.1616T>C (p.Leu539Ser)	PALMD (L539S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562568	NM_017734.5(PALMD):c.989G>A (p.Arg330Gln)	PALMD (R330Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515994	NM_017734.5(PALMD):c.166A>C (p.Ser56Arg)	PALMD (S56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489734	NM_017734.5(PALMD):c.1064A>G (p.Asn355Ser)	PALMD (N355S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486626	NM_017734.5(PALMD):c.1195A>G (p.Ile399Val)	PALMD (I399V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468863	NM_017734.5(PALMD):c.1640G>T (p.Gly547Val)	PALMD (G547V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395601	NM_017734.5(PALMD):c.1293G>C (p.Lys431Asn)	PALMD (K431N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393840	NM_017734.5(PALMD):c.1543A>G (p.Ser515Gly)	PALMD (S515G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378317	NM_017734.5(PALMD):c.1381C>T (p.Pro461Ser)	PALMD (P461S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356092	NM_017734.5(PALMD):c.560G>A (p.Gly187Glu)	PALMD (G187E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349582	NM_017734.5(PALMD):c.1544G>A (p.Ser515Asn)	PALMD (S515N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346150	NM_017734.5(PALMD):c.1196T>C (p.Ile399Thr)	PALMD (I399T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326827	NM_017734.5(PALMD):c.247C>T (p.Leu83Phe)	PALMD (L83F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309806	NM_017734.5(PALMD):c.359T>G (p.Ile120Ser)	PALMD (I120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286343	NM_017734.5(PALMD):c.1132A>G (p.Lys378Glu)	PALMD (K378E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284949	NM_017734.5(PALMD):c.1576A>G (p.Thr526Ala)	PALMD (T526A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274894	NM_017734.5(PALMD):c.782T>C (p.Val261Ala)	PALMD (V261A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260956	NM_017734.5(PALMD):c.324G>T (p.Lys108Asn)	PALMD (K108N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248651	NM_017734.5(PALMD):c.65A>C (p.Glu22Ala)	PALMD (E22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 786467	NM_017734.5(PALMD):c.1377G>T (p.Glu459Asp)	PALMD (E459D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780771	NM_017734.5(PALMD):c.219C>A (p.His73Gln)	PALMD (H73Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769517	NM_017734.5(PALMD):c.1383G>A (p.Pro461=)	PALMD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711963	NM_017734.5(PALMD):c.816A>T (p.Pro272=)	PALMD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711772	NM_017734.5(PALMD):c.1506T>C (p.Asn502=)	PALMD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 684930	GRCh37/hg19 1p21.2(chr1:100152182-100456266)x3	AGL, FRRS1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395147	GRCh37/hg19 1p21.2(chr1:99981283-100206475)x3	FRRS1, PALMD	Copy number gain	See cases	GLikely benign
Select item 147504	GRCh38/hg38 1p21.3-21.2(chr1:99110744-99679244)x3	LINC01708, LOC122094881 +8 more	Copy number gain	See cases	GUncertain significance
Select item 146798	GRCh38/hg38 1p21.2(chr1:99515860-100031916)x3	AGL, FRRS1 +13 more	Copy number gain	See cases	GLikely benign
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 61