ClinVar for Gene (Select 64236) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305561	NM_001368120.1(PDLIM2):c.620T>C (p.Met207Thr)	PDLIM2 (M207T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305560	NM_001368120.1(PDLIM2):c.637A>T (p.Ser213Cys)	PDLIM2 (S213C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305559	NM_021630.6(PDLIM2):c.724G>C (p.Ala242Pro)	LOC129999987, PDLIM2 (A242P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305558	NM_001368120.1(PDLIM2):c.170C>T (p.Ala57Val)	PDLIM2 (A307V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305557	NM_001368120.1(PDLIM2):c.488G>T (p.Gly163Val)	PDLIM2 (G413V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305556	NM_021630.6(PDLIM2):c.184G>A (p.Gly62Ser)	PDLIM2 (G62S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3305555	NM_021630.6(PDLIM2):c.250C>G (p.Arg84Gly)	PDLIM2 (R84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305554	NM_021630.6(PDLIM2):c.437G>T (p.Arg146Leu)	PDLIM2 (R146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305552	NM_001368120.1(PDLIM2):c.505C>T (p.Arg169Cys)	PDLIM2 (R419C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305551	NM_001368120.1(PDLIM2):c.1016G>A (p.Arg339His)	PDLIM2 (R589H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211000	NM_001368120.1(PDLIM2):c.94G>T (p.Val32Leu)	PDLIM2 (V32L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210999	NM_001368120.1(PDLIM2):c.34C>T (p.Pro12Ser)	PDLIM2 (P262S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210998	NM_001368120.1(PDLIM2):c.25G>A (p.Gly9Arg)	PDLIM2 (G259R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210997	NM_021630.6(PDLIM2):c.736G>A (p.Asp246Asn)	LOC129999987, PDLIM2 (D246N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210996	NM_021630.6(PDLIM2):c.664G>A (p.Gly222Ser)	LOC129999987, PDLIM2 (G222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210995	NM_021630.6(PDLIM2):c.602C>T (p.Pro201Leu)	PDLIM2 (P201L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210994	NM_021630.6(PDLIM2):c.23C>T (p.Pro8Leu)	PDLIM2 (P8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210993	NM_001368120.1(PDLIM2):c.1022G>A (p.Arg341His)	PDLIM2 (R591H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210992	NM_001368120.1(PDLIM2):c.754G>A (p.Glu252Lys)	PDLIM2 (E502K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210991	NM_001368120.1(PDLIM2):c.632G>C (p.Gly211Ala)	PDLIM2 (G461A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210990	NM_001368120.1(PDLIM2):c.631G>C (p.Gly211Arg)	PDLIM2 (G211R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210989	NM_001368120.1(PDLIM2):c.601C>T (p.Arg201Cys)	PDLIM2 (R201C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210988	NM_001368120.1(PDLIM2):c.586C>T (p.Pro196Ser)	PDLIM2 (P196S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210987	NM_001368120.1(PDLIM2):c.569C>T (p.Ala190Val)	PDLIM2 (A440V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210986	NM_001368120.1(PDLIM2):c.499G>A (p.Ala167Thr)	PDLIM2 (A167T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210985	NM_001368120.1(PDLIM2):c.433C>T (p.Leu145Phe)	PDLIM2 (L395F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210984	NM_001368120.1(PDLIM2):c.425G>A (p.Ser142Asn)	PDLIM2 (S392N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210983	NM_001368120.1(PDLIM2):c.403C>G (p.Pro135Ala)	PDLIM2 (P135A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210982	NM_001368120.1(PDLIM2):c.322G>C (p.Val108Leu)	PDLIM2 (V108L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2671605	Single allele	BIN3, BMP1 +24 more	Duplication	not provided	GUncertain significance
Select item 2620078	NM_001368120.1(PDLIM2):c.937T>C (p.Cys313Arg)	PDLIM2 (C563R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617187	NM_001368120.1(PDLIM2):c.1003G>A (p.Glu335Lys)	PDLIM2 (E335K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610099	NM_021630.6(PDLIM2):c.524G>C (p.Arg175Pro)	LOC129999986, PDLIM2 (R175P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2604976	NM_021630.6(PDLIM2):c.110C>G (p.Pro37Arg)	PDLIM2 (P37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599252	NM_001368120.1(PDLIM2):c.16G>C (p.Asp6His)	PDLIM2 (D6H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596910	NM_021630.6(PDLIM2):c.407G>A (p.Arg136Gln)	PDLIM2 (R136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2557203	NM_001368120.1(PDLIM2):c.456C>G (p.Ser152Arg)	PDLIM2 (S152R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556639	NM_001368120.1(PDLIM2):c.389C>G (p.Pro130Arg)	PDLIM2 (P130R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525401	NM_001368120.1(PDLIM2):c.1052G>A (p.Arg351Gln)	PDLIM2 (R351Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2525392	NM_021630.6(PDLIM2):c.595C>A (p.Leu199Ile)	PDLIM2 (L199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517269	NM_001368120.1(PDLIM2):c.230G>A (p.Arg77Gln)	PDLIM2 (R77Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511404	NM_021630.6(PDLIM2):c.613C>T (p.Leu205Phe)	PDLIM2 (L205F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510943	NM_021630.6(PDLIM2):c.440A>G (p.Gln147Arg)	PDLIM2 (Q147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 2491967	NM_021630.6(PDLIM2):c.83A>G (p.Gln28Arg)	PDLIM2 (Q28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490595	NM_001368120.1(PDLIM2):c.1015C>G (p.Arg339Gly)	PDLIM2 (R339G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489906	NM_001368120.1(PDLIM2):c.622G>A (p.Asp208Asn)	PDLIM2 (D458N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475795	NM_001368120.1(PDLIM2):c.178A>C (p.Met60Leu)	PDLIM2 (M310L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473135	NM_001368120.1(PDLIM2):c.605C>T (p.Ser202Phe)	PDLIM2 (S202F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464871	NM_021630.6(PDLIM2):c.56G>A (p.Arg19Gln)	PDLIM2 (R19Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458692	NM_021630.6(PDLIM2):c.115A>T (p.Ser39Cys)	PDLIM2 (S39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407395	NM_001368120.1(PDLIM2):c.548T>C (p.Leu183Pro)	PDLIM2 (L433P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406324	NM_001368120.1(PDLIM2):c.326G>A (p.Arg109Lys)	PDLIM2 (R109K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399964	NM_021630.6(PDLIM2):c.323G>C (p.Gly108Ala)	PDLIM2 (G108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397188	NM_001368120.1(PDLIM2):c.766G>A (p.Gly256Ser)	PDLIM2 (G256S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386729	NM_001368120.1(PDLIM2):c.229C>T (p.Arg77Trp)	PDLIM2 (R327W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373630	NM_001368120.1(PDLIM2):c.524G>T (p.Arg175Leu)	PDLIM2 (R175L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364969	NM_001368120.1(PDLIM2):c.817G>A (p.Ala273Thr)	PDLIM2 (A523T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2346380	NM_001368120.1(PDLIM2):c.541G>T (p.Ala181Ser)	PDLIM2 (A431S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344096	NM_001368120.1(PDLIM2):c.895C>T (p.Arg299Cys)	PDLIM2 (R299C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338550	NM_021630.6(PDLIM2):c.148C>G (p.Arg50Gly)	PDLIM2 (R50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326426	NM_001368120.1(PDLIM2):c.439G>A (p.Gly147Arg)	PDLIM2 (G397R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325662	NM_021630.6(PDLIM2):c.149G>A (p.Arg50Gln)	PDLIM2 (R50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314234	NM_001368120.1(PDLIM2):c.634G>A (p.Gly212Arg)	PDLIM2 (G462R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288379	NM_001368120.1(PDLIM2):c.809C>T (p.Ser270Phe)	PDLIM2 (S270F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282997	NM_021630.6(PDLIM2):c.725C>T (p.Ala242Val)	LOC129999987, PDLIM2 (A242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265560	NM_001368120.1(PDLIM2):c.271A>T (p.Thr91Ser)	PDLIM2 (T341S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250827	NM_001368120.1(PDLIM2):c.1025A>C (p.Tyr342Ser)	PDLIM2 (Y592S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249594	NM_001368120.1(PDLIM2):c.896G>A (p.Arg299His)	PDLIM2 (A260T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237051	NM_001368120.1(PDLIM2):c.72C>A (p.His24Gln)	PDLIM2 (H274Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231559	NM_021630.6(PDLIM2):c.112G>T (p.Gly38Cys)	PDLIM2 (G38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231236	NM_001368120.1(PDLIM2):c.218C>G (p.Pro73Arg)	PDLIM2 (P323R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221213	NM_021630.6(PDLIM2):c.224G>C (p.Gly75Ala)	PDLIM2 (G75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214618	NM_001368120.1(PDLIM2):c.566C>T (p.Ser189Leu)	PDLIM2 (S439L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212006	NM_001368120.1(PDLIM2):c.925G>A (p.Gly309Ser)	PDLIM2 (G309S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1410288	NC_000008.10:g.(?_21900440)_(23564111_?)dup	BIN3, BMP1 +32 more	Duplication	Conotruncal heart malformations	GUncertain significance
Select item 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	PIWIL2, STC1 +55 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 688470	GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1	ADAM28, BIN3 +37 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 686571	GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3	BIN3, BMP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 686366	GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1	ADAM28, ADAM7 +37 more	Copy number loss	not provided	GPathogenic
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic

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