ClinVar for Gene (Select 5099) - ClinVar

Links from Gene

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304618	NM_001173523.2(PCDH7):c.1981G>A (p.Val661Ile)	PCDH7 (V661I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304617	NM_001173523.2(PCDH7):c.3167G>A (p.Ser1056Asn)	PCDH7 (S1056N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304616	NM_001173523.2(PCDH7):c.1536C>G (p.Ser512Arg)	PCDH7 (S512R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304615	NM_001173523.2(PCDH7):c.3146G>A (p.Cys1049Tyr)	PCDH7 (C1049Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304614	NM_001173523.2(PCDH7):c.3116T>C (p.Ile1039Thr)	PCDH7 (I1039T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304613	NM_001173523.2(PCDH7):c.727G>A (p.Val243Met)	PCDH7 (V243M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209230	NM_001173523.2(PCDH7):c.883C>T (p.Arg295Trp)	PCDH7 (R295W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209229	NM_001173523.2(PCDH7):c.866C>G (p.Ser289Cys)	PCDH7 (S289C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209228	NM_001173523.2(PCDH7):c.625G>A (p.Gly209Ser)	PCDH7 (G209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209227	NM_001173523.2(PCDH7):c.452C>T (p.Thr151Met)	PCDH7 (T151M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209226	NM_001173523.2(PCDH7):c.419C>T (p.Thr140Met)	PCDH7 (T140M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209225	NM_001173523.2(PCDH7):c.3098C>T (p.Ala1033Val)	PCDH7 (A1033V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209224	NM_001173523.2(PCDH7):c.2641G>A (p.Val881Ile)	PCDH7 (V881I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209223	NM_001173523.2(PCDH7):c.2630G>A (p.Arg877Lys)	PCDH7 (R877K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209222	NM_001173523.2(PCDH7):c.22G>A (p.Gly8Arg)	PCDH7 (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209220	NM_001173523.2(PCDH7):c.2188C>A (p.Leu730Ile)	PCDH7 (L730I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209219	NM_001173523.2(PCDH7):c.1957C>A (p.Gln653Lys)	PCDH7 (Q653K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209218	NM_001173523.2(PCDH7):c.1871C>A (p.Thr624Lys)	PCDH7 (T624K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209217	NM_001173523.2(PCDH7):c.1747G>A (p.Ala583Thr)	PCDH7 (A583T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209215	NM_001173523.2(PCDH7):c.1571A>G (p.Lys524Arg)	PCDH7 (K524R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209214	NM_001173523.2(PCDH7):c.128C>T (p.Pro43Leu)	PCDH7 (P43L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062792	GRCh37/hg19 4p15.1(chr4:29726447-33392370)x3	PCDH7	Copy number gain	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2685962	GRCh37/hg19 4p15.2-15.1(chr4:27141524-34796213)x3	PCDH7	Copy number gain	not provided	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2542281	NM_001173523.2(PCDH7):c.2787C>G (p.Asp929Glu)	PCDH7 (D929E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534399	NM_001173523.2(PCDH7):c.389A>G (p.Gln130Arg)	PCDH7 (Q130R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532582	NM_001173523.2(PCDH7):c.1565T>C (p.Ile522Thr)	PCDH7 (I522T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531455	NM_001173523.2(PCDH7):c.1667C>G (p.Thr556Arg)	PCDH7 (T556R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527416	NM_001173523.2(PCDH7):c.685T>G (p.Ser229Ala)	PCDH7 (S229A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518822	NM_001173523.2(PCDH7):c.1273C>T (p.Leu425Phe)	PCDH7 (L425F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511544	NM_001173523.2(PCDH7):c.1293C>A (p.Asn431Lys)	PCDH7 (N431K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476516	NM_001173523.2(PCDH7):c.3001C>T (p.Pro1001Ser)	PCDH7 (P1001S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468191	NM_001173523.2(PCDH7):c.3024T>A (p.His1008Gln)	PCDH7 (H1008Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 2411594	NM_001173523.2(PCDH7):c.3557A>C (p.Gln1186Pro)	PCDH7 (Q1186P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411184	NM_001173523.2(PCDH7):c.1357G>A (p.Gly453Ser)	PCDH7 (G453S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397035	NM_001173523.2(PCDH7):c.1510G>A (p.Val504Ile)	PCDH7 (V504I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387406	NM_001173523.2(PCDH7):c.2650G>A (p.Val884Met)	PCDH7 (V884M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385351	NM_001173523.2(PCDH7):c.877A>G (p.Ile293Val)	PCDH7 (I293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373546	NM_001173523.2(PCDH7):c.1492A>G (p.Thr498Ala)	PCDH7 (T498A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362818	NM_001173523.2(PCDH7):c.1602G>A (p.Met534Ile)	PCDH7 (M534I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359151	NM_001173523.2(PCDH7):c.96G>C (p.Gln32His)	PCDH7 (Q32H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358215	NM_001173523.2(PCDH7):c.1243A>G (p.Ile415Val)	PCDH7 (I415V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349713	NM_001173523.2(PCDH7):c.682G>T (p.Ala228Ser)	PCDH7 (A228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347465	NM_001173523.2(PCDH7):c.608G>T (p.Ser203Ile)	PCDH7 (S203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344931	NM_001173523.2(PCDH7):c.2690T>C (p.Ile897Thr)	PCDH7 (I897T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337561	NM_001173523.2(PCDH7):c.1846A>G (p.Ile616Val)	PCDH7 (I616V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293866	NM_001173523.2(PCDH7):c.2495C>T (p.Thr832Met)	PCDH7 (T832M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282043	NM_001173523.2(PCDH7):c.100C>A (p.Leu34Ile)	PCDH7 (L34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273581	NM_001173523.2(PCDH7):c.1837G>A (p.Asp613Asn)	PCDH7 (D613N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261455	NM_001173523.2(PCDH7):c.1990A>T (p.Met664Leu)	PCDH7 (M664L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256513	NM_001173523.2(PCDH7):c.2757C>A (p.His919Gln)	PCDH7 (H919Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255221	NM_001173523.2(PCDH7):c.1649C>T (p.Pro550Leu)	PCDH7 (P550L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254262	NM_001173523.2(PCDH7):c.3591G>C (p.Met1197Ile)	PCDH7 (M1189I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249627	NM_001173523.2(PCDH7):c.499G>T (p.Ala167Ser)	PCDH7 (A167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239680	NM_001173523.2(PCDH7):c.359C>T (p.Ser120Leu)	PCDH7 (S120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234863	NM_001173523.2(PCDH7):c.284A>G (p.Lys95Arg)	PCDH7 (K95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229366	NM_001173523.2(PCDH7):c.1175A>C (p.Gln392Pro)	PCDH7 (Q392P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222531	NM_001173523.2(PCDH7):c.2452G>T (p.Val818Leu)	PCDH7 (V818L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221021	NM_001173523.2(PCDH7):c.3061G>A (p.Val1021Ile)	PCDH7 (V1021I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208005	NM_001173523.2(PCDH7):c.1271C>G (p.Pro424Arg)	PCDH7 (P424R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207815	NM_001173523.2(PCDH7):c.2215G>A (p.Ala739Thr)	PCDH7 (A739T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205092	NM_001173523.2(PCDH7):c.718C>T (p.Arg240Cys)	PCDH7 (R240C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1684990	NM_001173523.2(PCDH7):c.2150G>C (p.Gly717Ala)	PCDH7 (G717A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684989	NM_001173523.2(PCDH7):c.1458C>A (p.Phe486Leu)	PCDH7 (F486L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684988	NM_001173523.2(PCDH7):c.408C>G (p.Ile136Met)	PCDH7 (I136M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527079	GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)	ANAPC4, CCDC149 +15 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527077	GRCh37/hg19 4p15.31-14(chr4:19892850-37325128)	ADGRA3, ANAPC4 +23 more	Copy number loss	not specified	GPathogenic
Select item 980664	GRCh37/hg19 4p15.1(chr4:28607146-32017466)x1	PCDH7	Copy number loss	not provided	GLikely pathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 814542	GRCh37/hg19 4p15.1(chr4:31071933-31680476)x3	PCDH7	Copy number gain	not provided	GLikely benign
Select item 788407	NM_001173523.2(PCDH7):c.2649C>T (p.Gly883=)	PCDH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788406	NM_001173523.2(PCDH7):c.1704C>T (p.Ala568=)	PCDH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786512	NM_001173523.2(PCDH7):c.3450G>A (p.Glu1150=)	PCDH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780458	NM_001173523.2(PCDH7):c.3486C>T (p.Arg1162=)	PCDH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775955	NM_001173523.2(PCDH7):c.1191C>T (p.Asp397=)	PCDH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775954	NM_001173523.2(PCDH7):c.1134G>A (p.Val378=)	PCDH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716632	NM_001173523.2(PCDH7):c.2228C>T (p.Thr743Ile)	PCDH7 (T743I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 146534	GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	ADGRA3, ANAPC4 +201 more	Copy number loss	See cases	GPathogenic
Select item 144221	GRCh38/hg38 4p15.1(chr4:31101685-31644046)x3	LINC02497, LINC02501 +4 more	Copy number gain	See cases	GUncertain significance
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 97