(2[CHR] AND 1:146682000[chrpos] AND 136937000:2000000000[chrpos]) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 146815	GRCh38/hg38 2q21.3-22.2(chr2:136045480-142845159)x3	CXCR4, HNMT +46 more	Copy number gain	See cases	GPathogenic
Select item 154880	GRCh38/hg38 2q22.1(chr2:136696774-137028271)x1	THSD7B	Copy number loss	See cases	GLikely benign
Select item 152865	GRCh38/hg38 2q22.1(chr2:136863073-138263550)x3	HNMT, LINC01832 +4 more	Copy number gain	See cases	GLikely benign
Select item 148432	GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1	LOC129934870, LOC129934871 +75 more	Copy number loss	See cases	GPathogenic
Select item 58904	GRCh38/hg38 2q22.1(chr2:136937358-138263550)x3	HNMT, LINC01832 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2393889	NM_001316349.2(THSD7B):c.140-65491A>G	THSD7B	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 154488	GRCh38/hg38 2q22.1(chr2:137028226-137470344)x1	LOC122819161, THSD7B	Copy number loss	See cases	GLikely benign
Select item 2618665	NM_001316349.2(THSD7B):c.322G>A (p.Val108Ile)	THSD7B (V108I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314071	NM_001316349.2(THSD7B):c.376C>G (p.Pro126Ala)	THSD7B (P126A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471635	NM_001316349.2(THSD7B):c.389A>G (p.Glu130Gly)	THSD7B (E130G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315235	NM_001316349.2(THSD7B):c.538T>A (p.Cys180Ser)	THSD7B (C180S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411402	NM_001316349.2(THSD7B):c.860A>G (p.His287Arg)	THSD7B (H287R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369315	NM_001316349.2(THSD7B):c.1132G>A (p.Glu378Lys)	THSD7B (E378K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355459	NM_001316349.2(THSD7B):c.1160C>A (p.Ala387Asp)	THSD7B (A387D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392275	NM_001316349.2(THSD7B):c.1433A>T (p.Asn478Ile)	THSD7B (N478I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541987	NM_001316349.2(THSD7B):c.1448C>T (p.Thr483Met)	THSD7B (T483M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536386	NM_001316349.2(THSD7B):c.1543C>T (p.Arg515Cys)	THSD7B (R515C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396086	NM_001316349.2(THSD7B):c.1594G>A (p.Val532Met)	THSD7B (V532M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377471	NM_001316349.2(THSD7B):c.1705G>A (p.Val569Ile)	THSD7B (V569I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266941	NM_001316349.2(THSD7B):c.1715A>G (p.Asn572Ser)	THSD7B (N572S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312108	NM_001316349.2(THSD7B):c.1798A>T (p.Met600Leu)	THSD7B (M600L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343512	NM_001316349.2(THSD7B):c.1823C>T (p.Thr608Met)	THSD7B (T608M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496575	NM_001316349.2(THSD7B):c.1867G>A (p.Asp623Asn)	THSD7B (D623N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524487	NM_001316349.2(THSD7B):c.1919G>A (p.Gly640Glu)	THSD7B (G640E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483813	NM_001316349.2(THSD7B):c.1931C>A (p.Pro644His)	THSD7B (P644H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620896	NM_001316349.2(THSD7B):c.2092A>G (p.Ile698Val)	THSD7B (I698V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480607	NM_001316349.2(THSD7B):c.2177C>T (p.Thr726Ile)	THSD7B (T726I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270512	NM_001316349.2(THSD7B):c.2183G>A (p.Arg728His)	THSD7B (R728H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559466	NM_001316349.2(THSD7B):c.2657A>G (p.Asn886Ser)	THSD7B (N886S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241023	NM_001316349.2(THSD7B):c.2747T>C (p.Val916Ala)	THSD7B (V916A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553728	NM_001316349.2(THSD7B):c.2843G>T (p.Arg948Leu)	THSD7B (R948L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228932	NM_001316349.2(THSD7B):c.2877T>G (p.Cys959Trp)	THSD7B (C959W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325352	NM_001316349.2(THSD7B):c.2891G>A (p.Arg964His)	THSD7B (R964H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 155647	GRCh38/hg38 2q22.1(chr2:137433939-138535492)x3	HNMT, LINC01832 +12 more	Copy number gain	See cases	GLikely benign
Select item 2597981	NM_001316349.2(THSD7B):c.3029G>A (p.Gly1010Glu)	THSD7B (G1010E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490995	NM_001316349.2(THSD7B):c.3095A>G (p.Tyr1032Cys)	THSD7B (Y1032C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593229	NM_001316349.2(THSD7B):c.3167A>G (p.Glu1056Gly)	THSD7B (E1056G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237930	NM_001316349.2(THSD7B):c.3238C>T (p.Arg1080Cys)	THSD7B (R1080C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601793	NM_001316349.2(THSD7B):c.3293G>A (p.Gly1098Asp)	THSD7B (G1098D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229320	NM_001316349.2(THSD7B):c.3433C>A (p.Pro1145Thr)	THSD7B (P1145T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228279	NM_001316349.2(THSD7B):c.3557A>C (p.Asn1186Thr)	THSD7B (N1186T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588517	NM_001316349.2(THSD7B):c.3558T>A (p.Asn1186Lys)	THSD7B (N1186K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521108	NM_001316349.2(THSD7B):c.3590A>C (p.Glu1197Ala)	THSD7B (E1197A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298202	NM_001316349.2(THSD7B):c.3613G>A (p.Val1205Ile)	THSD7B (V1205I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620667	NM_001316349.2(THSD7B):c.3622C>T (p.Arg1208Cys)	THSD7B (R1208C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346712	NM_001316349.2(THSD7B):c.3632G>A (p.Ser1211Asn)	THSD7B (S1211N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355967	NM_001316349.2(THSD7B):c.3733G>A (p.Val1245Met)	THSD7B (V1245M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274985	NM_001316349.2(THSD7B):c.3812G>A (p.Arg1271Gln)	THSD7B (R1271Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617852	NM_001316349.2(THSD7B):c.3851G>A (p.Arg1284Gln)	THSD7B (R1284Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541067	NM_001316349.2(THSD7B):c.3947G>A (p.Gly1316Asp)	THSD7B (G1316D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608379	NM_001316349.2(THSD7B):c.3999C>G (p.His1333Gln)	THSD7B (H1333Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207520	NM_001316349.2(THSD7B):c.4301C>T (p.Thr1434Ile)	THSD7B (T1434I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296553	NM_001316349.2(THSD7B):c.4325A>G (p.Asn1442Ser)	THSD7B (N1442S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541691	NM_001316349.2(THSD7B):c.4358A>C (p.Asp1453Ala)	THSD7B (D1453A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271646	NM_001316349.2(THSD7B):c.4363G>A (p.Val1455Ile)	THSD7B (V1455I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2407770	NM_001316349.2(THSD7B):c.4702A>T (p.Ile1568Phe)	THSD7B (I1568F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335313	NM_001316349.2(THSD7B):c.4702A>G (p.Ile1568Val)	THSD7B (I1568V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285988	NM_001316349.2(THSD7B):c.4718T>C (p.Ile1573Thr)	THSD7B (I1573T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2692434	NM_006895.3(HNMT):c.3G>A (p.Met1Ile)	HNMT (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 722039	NM_006895.3(HNMT):c.45T>C (p.Tyr15=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2225354	NM_006895.3(HNMT):c.125G>A (p.Gly42Asp)	HNMT (G42D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718989	NM_006895.3(HNMT):c.137+5C>A	HNMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2502178	NM_006895.3(HNMT):c.137+2287G>A	HNMT	Single nucleotide variant (intron variant)	Inherited susceptibility to asthma +1 more	GUncertain significance
Select item 2692433	NM_006895.3(HNMT):c.143G>C (p.Gly48Ala)	HNMT (G48A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 751982	NM_006895.3(HNMT):c.144A>T (p.Gly48=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2369809	NM_006895.3(HNMT):c.149C>T (p.Thr50Ile)	HNMT (T50I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 219125	NM_006895.3(HNMT):c.179G>A (p.Gly60Asp)	HNMT (G60D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 51	GPathogenic
Select item 744659	NM_006895.3(HNMT):c.180C>T (p.Gly60=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1335402	NM_006895.3(HNMT):c.190+11042G>A	HNMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620229	NM_006895.3(HNMT):c.235C>T (p.Pro79Ser)	HNMT (P79S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 5160	NM_006895.3(HNMT):c.314C>T (p.Thr105Ile)	HNMT (T105I)	Single nucleotide variant (missense variant)	HNMT-related condition	GBenign
Select item 1032500	NM_006895.3(HNMT):c.317C>T (p.Ser106Leu)	HNMT (S106L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 51	GUncertain significance
Select item 721467	NM_006895.3(HNMT):c.325G>A (p.Glu109Lys)	HNMT (E109K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2591084	NM_006895.3(HNMT):c.341C>T (p.Ala114Val)	HNMT (A114V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720763	NM_006895.3(HNMT):c.354G>A (p.Glu118=)	HNMT	Single nucleotide variant (synonymous variant)	HNMT-related condition +1 more	GBenign/Likely benign
Select item 2557533	NM_006895.3(HNMT):c.454C>T (p.Pro152Ser)	HNMT (P152S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750363	NM_006895.3(HNMT):c.456A>G (p.Pro152=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 445774	NM_006895.3(HNMT):c.475del (p.His159fs)	HNMT (H159fs)	Deletion (frameshift variant)	Inherited susceptibility to asthma +3 more	GConflicting classifications of pathogenicity
Select item 2473186	NM_006895.3(HNMT):c.475C>T (p.His159Tyr)	HNMT (H159Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432492	NM_006895.3(HNMT):c.534C>T (p.Gly178=)	HNMT	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 51	GUncertain significance
Select item 729712	NM_006895.3(HNMT):c.558C>T (p.Tyr186=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745364	NM_006895.3(HNMT):c.567C>T (p.Arg189=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038800	NM_006895.3(HNMT):c.594T>C (p.Tyr198=)	HNMT	Single nucleotide variant (synonymous variant)	HNMT-related condition	GLikely benign
Select item 2651383	NM_006895.3(HNMT):c.600A>G (p.Thr200=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 219126	NM_006895.3(HNMT):c.623T>C (p.Leu208Pro)	HNMT (L208P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 51	GPathogenic/Likely pathogenic
Select item 714038	NM_006895.3(HNMT):c.750T>C (p.Phe250=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617610	NM_006895.3(HNMT):c.821A>G (p.Lys274Arg)	HNMT (K274R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519794	NM_006895.3(HNMT):c.851C>T (p.Thr284Ile)	HNMT (T284I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036881	NM_006895.3(HNMT):c.863T>C (p.Ile288Thr)	HNMT (I288T)	Single nucleotide variant (missense variant)	HNMT-related condition	GLikely benign
Select item 742498	NM_006895.3(HNMT):c.876A>T (p.Ala292=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2262700	NM_001001664.3(SPOPL):c.252G>T (p.Leu84Phe)	SPOPL (L84F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569135	NM_001001664.3(SPOPL):c.262T>G (p.Leu88Val)	SPOPL (L88V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236555	NM_001001664.3(SPOPL):c.325G>C (p.Ala109Pro)	SPOPL (A109P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588457	NM_001001664.3(SPOPL):c.332G>A (p.Arg111Lys)	SPOPL (R111K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344838	NM_001001664.3(SPOPL):c.426G>T (p.Leu142Phe)	SPOPL (L142F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344839	NM_001001664.3(SPOPL):c.427C>T (p.Leu143Phe)	SPOPL (L143F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290664	NM_001001664.3(SPOPL):c.471A>C (p.Leu157Phe)	SPOPL (L157F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559116	NM_001001664.3(SPOPL):c.485G>A (p.Ser162Asn)	SPOPL (S162N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331035	NM_001001664.3(SPOPL):c.682A>G (p.Met228Val)	SPOPL (M228V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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