ClinVar for Gene (Select 112267934) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304666	NM_018903.4(PCDHA12):c.37C>A (p.Arg13Ser)	LOC112267934, PCDHA1 +12 more (R13S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304664	NM_018902.5(PCDHA11):c.1157G>T (p.Cys386Phe)	LOC112267934, PCDHA1 +11 more (C386F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304663	NM_018902.5(PCDHA11):c.1218G>C (p.Leu406Phe)	LOC112267934, PCDHA1 +11 more (L406F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304662	NM_018902.5(PCDHA11):c.2290C>G (p.Pro764Ala)	LOC112267934, PCDHA1 +11 more (P764A)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304661	NM_018902.5(PCDHA11):c.1625C>A (p.Pro542Gln)	LOC112267934, PCDHA1 +11 more (P542Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304659	NM_018902.5(PCDHA11):c.392C>T (p.Pro131Leu)	LOC112267934, PCDHA1 +11 more (P131L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304658	NM_018902.5(PCDHA11):c.1411T>C (p.Cys471Arg)	LOC112267934, PCDHA1 +11 more (C471R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304657	NM_018902.5(PCDHA11):c.1504G>T (p.Ala502Ser)	LOC112267934, PCDHA1 +11 more (A502S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304656	NM_018902.5(PCDHA11):c.2284G>A (p.Gly762Ser)	PCDHA4, PCDHA5 +11 more (G762S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304655	NM_018902.5(PCDHA11):c.361G>A (p.Val121Met)	LOC112267934, PCDHA1 +11 more (V121M)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 3209335	NM_018903.4(PCDHA12):c.418G>T (p.Val140Leu)	LOC112267934, PCDHA1 +12 more (V140L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209334	NM_018903.4(PCDHA12):c.417G>T (p.Lys139Asn)	LOC112267934, PCDHA1 +12 more (K139N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209333	NM_018903.4(PCDHA12):c.371A>G (p.Lys124Arg)	LOC112267934, PCDHA1 +12 more (K124R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209332	NM_018903.4(PCDHA12):c.292C>T (p.Arg98Trp)	LOC112267934, PCDHA1 +12 more (R98W)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209331	NM_018903.4(PCDHA12):c.274C>T (p.Arg92Cys)	LOC112267934, PCDHA1 +12 more (R92C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209316	NM_018902.5(PCDHA11):c.824G>A (p.Gly275Glu)	LOC112267934, PCDHA1 +11 more (G275E)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209315	NM_018902.5(PCDHA11):c.723G>T (p.Glu241Asp)	LOC112267934, PCDHA1 +11 more (E241D)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209314	NM_018902.5(PCDHA11):c.514C>G (p.Leu172Val)	LOC112267934, PCDHA1 +11 more (L172V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209313	NM_018902.5(PCDHA11):c.487G>A (p.Glu163Lys)	LOC112267934, PCDHA1 +11 more (E163K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209312	NM_018902.5(PCDHA11):c.307A>G (p.Ser103Gly)	LOC112267934, PCDHA1 +11 more (S103G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209311	NM_018902.5(PCDHA11):c.293A>G (p.Gln98Arg)	LOC112267934, PCDHA1 +11 more (Q98R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3209310	NM_018902.5(PCDHA11):c.1781G>T (p.Arg594Leu)	LOC112267934, PCDHA1 +11 more (R594L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209309	NM_018902.5(PCDHA11):c.1742C>T (p.Pro581Leu)	LOC112267934, PCDHA1 +11 more (P581L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209308	NM_018902.5(PCDHA11):c.1414C>T (p.His472Tyr)	LOC112267934, PCDHA1 +11 more (H472Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209307	NM_018902.5(PCDHA11):c.1412G>A (p.Cys471Tyr)	LOC112267934, PCDHA1 +11 more (C471Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209306	NM_018902.5(PCDHA11):c.1318G>T (p.Val440Leu)	LOC112267934, PCDHA1 +11 more (V440L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3024695	NM_018903.4(PCDHA12):c.309T>C (p.Ser103=)	LOC112267934, PCDHA1 +12 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3024694	NM_018903.4(PCDHA12):c.299C>T (p.Ala100Val)	LOC112267934, PCDHA1 +12 more (A100V)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2655793	NM_018902.5(PCDHA11):c.1800A>C (p.Ser600=)	LOC112267934, PCDHA1 +11 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2655792	NM_018902.5(PCDHA11):c.1407A>G (p.Pro469=)	PCDHA10, PCDHA11 +11 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2655791	NM_018902.5(PCDHA11):c.516A>G (p.Leu172=)	PCDHA8, PCDHA9 +11 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2655790	NM_018907.4(PCDHA4):c.2385+59713A>C	LOC112267934, PCDHA1 +11 more (Q61P)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2655789	NM_018902.5(PCDHA11):c.98A>G (p.Tyr33Cys)	LOC112267934, PCDHA1 +11 more (Y33C)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2623726	NM_018903.4(PCDHA12):c.145G>T (p.Ala49Ser)	LOC112267934, PCDHA1 +12 more (A49S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2618111	NM_018902.5(PCDHA11):c.995A>G (p.His332Arg)	LOC112267934, PCDHA1 +11 more (H332R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2614280	NM_018902.5(PCDHA11):c.2306T>C (p.Met769Thr)	LOC112267934, PCDHA1 +11 more (M769T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2591575	NM_018902.5(PCDHA11):c.653G>A (p.Gly218Glu)	LOC112267934, PCDHA1 +11 more (G218E)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2589449	NM_018902.5(PCDHA11):c.1214C>G (p.Ser405Trp)	LOC112267934, PCDHA1 +11 more (S405W)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2566320	NM_018902.5(PCDHA11):c.968A>G (p.Asp323Gly)	LOC112267934, PCDHA1 +11 more (D323G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2564195	NM_018902.5(PCDHA11):c.982C>T (p.Pro328Ser)	LOC112267934, PCDHA1 +11 more (P328S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2560735	NM_018902.5(PCDHA11):c.358A>G (p.Asn120Asp)	LOC112267934, PCDHA1 +11 more (N120D)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2544413	NM_018903.4(PCDHA12):c.344A>C (p.Gln115Pro)	LOC112267934, PCDHA1 +12 more (Q115P)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2539373	NM_018902.5(PCDHA11):c.1613A>G (p.Asp538Gly)	LOC112267934, PCDHA1 +11 more (D538G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2534417	NM_018903.4(PCDHA12):c.212A>G (p.His71Arg)	LOC112267934, PCDHA1 +12 more (H71R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2534416	NM_018903.4(PCDHA12):c.211C>G (p.His71Asp)	LOC112267934, PCDHA1 +12 more (H71D)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2534415	NM_018903.4(PCDHA12):c.210A>C (p.Arg70Ser)	LOC112267934, PCDHA1 +12 more (R70S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2534414	NM_018903.4(PCDHA12):c.208A>G (p.Arg70Gly)	LOC112267934, PCDHA1 +12 more (R70G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2534413	NM_018903.4(PCDHA12):c.196G>A (p.Val66Met)	LOC112267934, PCDHA1 +12 more (V66M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2534409	NM_018902.5(PCDHA11):c.1550A>T (p.Tyr517Phe)	LOC112267934, PCDHA1 +11 more (Y517F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2534407	NM_018902.5(PCDHA11):c.1543A>C (p.Lys515Gln)	LOC112267934, PCDHA1 +11 more (K515Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2534406	NM_018902.5(PCDHA11):c.1500C>G (p.Asp500Glu)	LOC112267934, PCDHA1 +11 more (D500E)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2534405	NM_018902.5(PCDHA11):c.1468T>G (p.Ser490Ala)	LOC112267934, PCDHA1 +11 more (S490A)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2534404	NM_018902.5(PCDHA11):c.1463T>G (p.Leu488Arg)	LOC112267934, PCDHA1 +11 more (L488R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2526683	NM_018902.5(PCDHA11):c.2354G>A (p.Gly785Glu)	LOC112267934, PCDHA1 +11 more (G785E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2494277	NM_018902.5(PCDHA11):c.1844G>A (p.Gly615Asp)	LOC112267934, PCDHA1 +11 more (G615D)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2490250	NM_018902.5(PCDHA11):c.1288G>A (p.Gly430Ser)	LOC112267934, PCDHA1 +11 more (G430S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2487842	NM_018902.5(PCDHA11):c.2276C>T (p.Ser759Phe)	LOC112267934, PCDHA1 +11 more (S759F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2483093	NM_018902.5(PCDHA11):c.1885G>A (p.Glu629Lys)	LOC112267934, PCDHA1 +11 more (E629K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2480727	NM_018902.5(PCDHA11):c.1114A>G (p.Ser372Gly)	LOC112267934, PCDHA1 +11 more (S372G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2477600	NM_018902.5(PCDHA11):c.2233G>A (p.Gly745Arg)	LOC112267934, PCDHA1 +11 more (G745R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2460447	NM_018902.5(PCDHA11):c.2165G>T (p.Trp722Leu)	LOC112267934, PCDHA1 +11 more (W722L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2456266	NM_018903.4(PCDHA12):c.263C>G (p.Ser88Cys)	LOC112267934, PCDHA1 +12 more (S88C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2397970	NM_018902.5(PCDHA11):c.158G>A (p.Gly53Glu)	LOC112267934, PCDHA1 +11 more (G53E)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2391086	NM_018902.5(PCDHA11):c.1895C>G (p.Thr632Arg)	LOC112267934, PCDHA1 +11 more (T632R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2373640	NM_018902.5(PCDHA11):c.1447G>T (p.Ala483Ser)	LOC112267934, PCDHA1 +11 more (A483S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2371241	NM_018902.5(PCDHA11):c.1705G>A (p.Ala569Thr)	LOC112267934, PCDHA1 +11 more (A569T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2366099	NM_018902.5(PCDHA11):c.2098A>G (p.Ile700Val)	LOC112267934, PCDHA1 +11 more (I700V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2365201	NM_018902.5(PCDHA11):c.2013C>A (p.Ser671Arg)	LOC112267934, PCDHA1 +11 more (S671R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2356297	NM_018902.5(PCDHA11):c.2050G>C (p.Gly684Arg)	LOC112267934, PCDHA1 +11 more (G684R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2355403	NM_018902.5(PCDHA11):c.1261G>A (p.Glu421Lys)	LOC112267934, PCDHA1 +11 more (E421K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2351170	NM_018903.4(PCDHA12):c.361G>T (p.Val121Leu)	LOC112267934, PCDHA1 +12 more (V121L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2345884	NM_018902.5(PCDHA11):c.680G>C (p.Arg227Pro)	LOC112267934, PCDHA1 +11 more (R227P)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2316044	NM_018903.4(PCDHA12):c.269T>C (p.Ile90Thr)	LOC112267934, PCDHA1 +12 more (I90T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2314419	NM_018902.5(PCDHA11):c.2295G>T (p.Lys765Asn)	LOC112267934, PCDHA1 +11 more (K765N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2311766	NM_018902.5(PCDHA11):c.917C>T (p.Thr306Ile)	LOC112267934, PCDHA1 +11 more (T306I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2310403	NM_018903.4(PCDHA12):c.345G>C (p.Gln115His)	LOC112267934, PCDHA1 +12 more (Q115H)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2292019	NM_018902.5(PCDHA11):c.996C>A (p.His332Gln)	LOC112267934, PCDHA1 +11 more (H332Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2289693	NM_018902.5(PCDHA11):c.2280G>C (p.Glu760Asp)	LOC112267934, PCDHA1 +11 more (E760D)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2289271	NM_018902.5(PCDHA11):c.394G>A (p.Val132Met)	LOC112267934, PCDHA1 +11 more (V132M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2280748	NM_018903.4(PCDHA12):c.179T>C (p.Val60Ala)	LOC112267934, PCDHA1 +12 more (V60A)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2275088	NM_018903.4(PCDHA12):c.361G>A (p.Val121Met)	LOC112267934, PCDHA1 +12 more (V121M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2272993	NM_018903.4(PCDHA12):c.106T>C (p.Tyr36His)	LOC112267934, PCDHA1 +12 more (Y36H)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2270277	NM_018902.5(PCDHA11):c.2269G>A (p.Val757Met)	PCDHA9, PCDHA@ +11 more (V757M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2269044	NM_018902.5(PCDHA11):c.1741C>T (p.Pro581Ser)	LOC112267934, PCDHA1 +11 more (P581S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2264990	NM_018902.5(PCDHA11):c.1166C>T (p.Thr389Met)	LOC112267934, PCDHA1 +11 more (T389M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2262569	NM_018902.5(PCDHA11):c.1523C>T (p.Ser508Leu)	LOC112267934, PCDHA1 +11 more (S508L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2261834	NM_018902.5(PCDHA11):c.1249G>T (p.Val417Leu)	LOC112267934, PCDHA1 +11 more (V417L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2254879	NM_018903.4(PCDHA12):c.418G>A (p.Val140Ile)	LOC112267934, PCDHA1 +12 more (V140I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2254364	NM_018902.5(PCDHA11):c.1501C>A (p.Arg501Ser)	LOC112267934, PCDHA1 +11 more (R501S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2254194	NM_018902.5(PCDHA11):c.1928G>A (p.Arg643His)	PCDHA1, LOC112267934 +11 more (R643H)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2253184	NM_018902.5(PCDHA11):c.934A>G (p.Asn312Asp)	LOC112267934, PCDHA1 +11 more (N312D)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2238712	NM_018903.4(PCDHA12):c.107A>C (p.Tyr36Ser)	LOC112267934, PCDHA1 +12 more (Y36S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2224802	NM_018902.5(PCDHA11):c.1442C>T (p.Ala481Val)	LOC112267934, PCDHA1 +11 more (A481V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2222670	NM_018903.4(PCDHA12):c.38G>T (p.Arg13Leu)	LOC112267934, PCDHA1 +12 more (R13L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2212153	NM_018902.5(PCDHA11):c.1310C>G (p.Thr437Arg)	LOC112267934, PCDHA1 +11 more (T437R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2205696	NM_018902.5(PCDHA11):c.1865G>A (p.Arg622His)	LOC112267934, PCDHA1 +11 more (R622H)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Items: 100