4040[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	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 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 1282177	NC_000017.11:g.44557317G>C	FZD2	Single nucleotide variant	not provided	GBenign
Select item 2833706	NM_001466.4(FZD2):c.1A>G (p.Met1Val)	FZD2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869148	NM_001466.4(FZD2):c.4C>A (p.Arg2=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2977660	NM_001466.4(FZD2):c.15C>G (p.Ser5Arg)	FZD2 (S5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599660	NM_001466.4(FZD2):c.19C>T (p.Leu7=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782156	NM_001466.4(FZD2):c.33_34insATGCCG (p.Leu11_Leu12insMetPro)	FZD2	Insertion (inframe_insertion)	not provided	GBenign
Select item 2963282	NM_001466.4(FZD2):c.41TGC[5] (p.Leu17_Pro18insLeu)	FZD2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 782157	NM_001466.4(FZD2):c.38C>T (p.Pro13Leu)	FZD2 (P13L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1640751	NM_001466.4(FZD2):c.39G>A (p.Pro13=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1447555	NM_001466.4(FZD2):c.43C>G (p.Leu15Val)	FZD2 (L15V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910681	NM_001466.4(FZD2):c.54C>T (p.Pro18=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943998	NM_001466.4(FZD2):c.57C>G (p.Ala19=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1404690	NM_001466.4(FZD2):c.61G>A (p.Gly21Arg)	FZD2 (G21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714735	NM_001466.4(FZD2):c.61G>C (p.Gly21Arg)	FZD2 (G21R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 752332	NM_001466.4(FZD2):c.66G>C (p.Pro22=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2552228	NM_001466.4(FZD2):c.76C>G (p.His26Asp)	FZD2 (H26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1361232	NM_001466.4(FZD2):c.79G>C (p.Gly27Arg)	FZD2 (G27R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 756773	NM_001466.4(FZD2):c.90C>T (p.Gly30=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089094	NM_001466.4(FZD2):c.99C>G (p.Ile33Met)	FZD2 (I33M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609866	NM_001466.4(FZD2):c.123C>T (p.Pro41=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017313	NM_001466.4(FZD2):c.127T>G (p.Ser43Ala)	FZD2 (S43A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1540246	NM_001466.4(FZD2):c.150C>A (p.Ile50=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183716	NM_001466.4(FZD2):c.168C>T (p.Ile56=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1572268	NM_001466.4(FZD2):c.235C>T (p.Leu79=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2266137	NM_001466.4(FZD2):c.248A>G (p.Gln83Arg)	FZD2 (Q83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1718893	NM_001466.4(FZD2):c.248A>C (p.Gln83Pro)	FZD2 (Q83P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801662	NM_001466.4(FZD2):c.266G>T (p.Arg89Leu)	FZD2 (R89L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1996836	NM_001466.4(FZD2):c.266_267delinsTT (p.Arg89Leu)	FZD2 (R89L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1586981	NM_001466.4(FZD2):c.273C>T (p.Phe91=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909736	NM_001466.4(FZD2):c.283A>T (p.Met95Leu)	FZD2 (M95L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690730	NM_001466.4(FZD2):c.290C>T (p.Ala97Val)	FZD2 (A97V)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2322650	NM_001466.4(FZD2):c.302C>T (p.Thr101Ile)	FZD2 (T101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2129342	NM_001466.4(FZD2):c.310G>C (p.Glu104Gln)	FZD2 (E104Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1607176	NM_001466.4(FZD2):c.339C>T (p.Ile113=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1476464	NM_001466.4(FZD2):c.353_354dup (p.Gln119fs)	FZD2 (Q119fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 981470	NM_001466.4(FZD2):c.367_388dup (p.Phe130fs)	FZD2 (F130fs)	Duplication (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 1960309	NM_001466.4(FZD2):c.367G>A (p.Ala123Thr)	FZD2 (A123T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3043146	NM_001466.4(FZD2):c.369C>T (p.Ala123=)	FZD2	Single nucleotide variant (synonymous variant)	FZD2-related disorder	GLikely benign
Select item 2908634	NM_001466.4(FZD2):c.372C>A (p.Leu124=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3097664	NM_001466.4(FZD2):c.384C>G (p.Phe128Leu)	FZD2 (F128L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1719121	NM_001466.4(FZD2):c.400_401inv (p.Glu134Ser)	FZD2 (E134S)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1098642	NM_001466.4(FZD2):c.400G>C (p.Glu134Gln)	FZD2 (E134Q)	Single nucleotide variant (missense variant)	Autosomal dominant omodysplasia	GUncertain significance
Select item 2722978	NM_001466.4(FZD2):c.403C>A (p.Arg135Ser)	FZD2 (R135S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441595	NM_001466.4(FZD2):c.407T>A (p.Leu136Gln)	FZD2 (L136Q)	Single nucleotide variant (missense variant)	Autosomal dominant omodysplasia	GUncertain significance
Select item 2873543	NM_001466.4(FZD2):c.419A>G (p.His140Arg)	FZD2 (H140R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098245	NM_001466.4(FZD2):c.423C>T (p.Phe141=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878564	NM_001466.4(FZD2):c.435C>G (p.Gly145=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2470742	NM_001466.4(FZD2):c.436G>T (p.Ala146Ser)	FZD2 (A146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1939143	NM_001466.4(FZD2):c.456C>A (p.Gly152=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918957	NM_001466.4(FZD2):c.469G>A (p.Glu157Lys)	FZD2 (E157K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031152	NM_001466.4(FZD2):c.471G>A (p.Glu157=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2956590	NM_001466.4(FZD2):c.475G>C (p.Gly159Arg)	FZD2 (G159R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894731	NM_001466.4(FZD2):c.476G>C (p.Gly159Ala)	FZD2 (G159A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025896	NM_001466.4(FZD2):c.481C>T (p.Pro161Ser)	FZD2 (P161S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036094	NM_001466.4(FZD2):c.483C>G (p.Pro161=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126954	NM_001466.4(FZD2):c.495C>T (p.Thr165=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1624436	NM_001466.4(FZD2):c.495C>A (p.Thr165=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481944	NM_001466.4(FZD2):c.506C>T (p.Pro169Leu)	FZD2 (P169L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3057013	NM_001466.4(FZD2):c.510G>C (p.Pro170=)	FZD2	Single nucleotide variant (synonymous variant)	FZD2-related disorder	GLikely benign
Select item 3055837	NM_001466.4(FZD2):c.513A>G (p.Gly171=)	FZD2	Single nucleotide variant (synonymous variant)	FZD2-related disorder	GLikely benign
Select item 2391044	NM_001466.4(FZD2):c.519G>C (p.Gln173His)	FZD2 (Q173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1360727	NM_001466.4(FZD2):c.520C>T (p.Pro174Ser)	FZD2 (P174S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872804	NM_001466.4(FZD2):c.521C>T (p.Pro174Leu)	FZD2 (P174L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869354	NM_001466.4(FZD2):c.524G>T (p.Gly175Val)	FZD2 (G175V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2521824	NM_001466.4(FZD2):c.524G>A (p.Gly175Asp)	FZD2 (G175D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388526	NM_001466.4(FZD2):c.529G>C (p.Gly177Arg)	FZD2 (G177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391045	NM_001466.4(FZD2):c.530G>C (p.Gly177Ala)	FZD2 (G177A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491323	NM_001466.4(FZD2):c.532G>A (p.Gly178Ser)	FZD2 (G178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1528860	NM_001466.4(FZD2):c.537C>A (p.Thr179=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648784	NM_001466.4(FZD2):c.538C>T (p.Pro180Ser)	FZD2 (P180S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2390578	NM_001466.4(FZD2):c.542G>C (p.Gly181Ala)	FZD2 (G181A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056431	NM_001466.4(FZD2):c.546C>T (p.Gly182=)	FZD2	Single nucleotide variant (synonymous variant)	FZD2-related disorder	GLikely benign
Select item 3056809	NM_001466.4(FZD2):c.549G>C (p.Pro183=)	FZD2	Single nucleotide variant (synonymous variant)	FZD2-related disorder	GLikely benign
Select item 2969637	NM_001466.4(FZD2):c.551GCG[5] (p.Gly187_Ala188insGly)	FZD2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2376886	NM_001466.4(FZD2):c.562G>T (p.Ala188Ser)	FZD2 (A188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1372662	NM_001466.4(FZD2):c.565C>T (p.Pro189Ser)	FZD2 (P189S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050703	NM_001466.4(FZD2):c.572G>T (p.Arg191Leu)	FZD2 (R191L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856341	NM_001466.4(FZD2):c.598C>T (p.His200Tyr)	FZD2 (H200Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 773877	NM_001466.4(FZD2):c.606G>T (p.Pro202=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2178661	NM_001466.4(FZD2):c.616A>C (p.Lys206Gln)	FZD2 (K206Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2908986	NM_001466.4(FZD2):c.633C>T (p.Leu211=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996740	NM_001466.4(FZD2):c.651C>G (p.Gly217=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 599511	NM_001466.4(FZD2):c.655C>T (p.Arg219Cys)	FZD2 (R219C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1288439	NM_001466.4(FZD2):c.660T>C (p.Asp220=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1378140	NM_001466.4(FZD2):c.668C>T (p.Ala223Val)	FZD2 (A223V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2715052	NM_001466.4(FZD2):c.685C>A (p.Arg229=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1961348	NM_001466.4(FZD2):c.705C>G (p.Phe235Leu)	FZD2 (F235L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032234	NM_001466.4(FZD2):c.711A>C (p.Ser237=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2709113	NM_001466.4(FZD2):c.724C>G (p.Arg242Gly)	FZD2 (R242G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2604450	NM_001466.4(FZD2):c.745C>T (p.Leu249Phe)	FZD2 (L249F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713708	NM_001466.4(FZD2):c.749C>T (p.Thr250Ile)	FZD2 (T250I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1896299	NM_001466.4(FZD2):c.757G>C (p.Val253Leu)	FZD2 (V253L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609970	NM_001466.4(FZD2):c.759G>T (p.Val253=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1578686	NM_001466.4(FZD2):c.768C>T (p.Cys256=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851028	NM_001466.4(FZD2):c.791C>G (p.Thr264Ser)	FZD2 (T264S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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