PCDHA4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	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
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 2210929	NM_018907.4(PCDHA4):c.52C>T (p.Leu18Phe)	PCDHA1, PCDHA2 +3 more (L18F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516957	NM_018907.4(PCDHA4):c.145G>T (p.Ala49Ser)	PCDHA1, PCDHA2 +3 more (A49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209416	NM_018907.4(PCDHA4):c.297C>G (p.Ser99Arg)	PCDHA1, PCDHA2 +3 more (S99R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294252	NM_018907.4(PCDHA4):c.319G>C (p.Glu107Gln)	PCDHA1, PCDHA2 +3 more (E107Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209417	NM_018907.4(PCDHA4):c.338C>A (p.Pro113Gln)	PCDHA1, PCDHA2 +3 more (P113Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278743	NM_018907.4(PCDHA4):c.382G>C (p.Asp128His)	PCDHA1, PCDHA2 +3 more (D128H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209418	NM_018907.4(PCDHA4):c.389C>T (p.Pro130Leu)	PCDHA1, PCDHA2 +3 more (P130L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655752	NM_018907.4(PCDHA4):c.390G>T (p.Pro130=)	PCDHA2, PCDHA@ +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655753	NM_018907.4(PCDHA4):c.405A>G (p.Ala135=)	PCDHA1, PCDHA2 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655754	NM_018907.4(PCDHA4):c.417C>T (p.Asn139=)	PCDHA1, PCDHA2 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2344570	NM_018907.4(PCDHA4):c.490G>A (p.Glu164Lys)	PCDHA1, PCDHA2 +3 more (E164K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212945	NM_018907.4(PCDHA4):c.622A>G (p.Ile208Val)	PCDHA1, PCDHA2 +3 more (I208V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455782	NM_018907.4(PCDHA4):c.630A>C (p.Leu210Phe)	PCDHA1, PCDHA2 +3 more (L210F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304700	NM_018907.4(PCDHA4):c.635T>C (p.Leu212Pro)	PCDHA1, PCDHA2 +3 more (L212P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304709	NM_018907.4(PCDHA4):c.650G>T (p.Gly217Val)	PCDHA1, PCDHA2 +3 more (G217V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377794	NM_018907.4(PCDHA4):c.658C>T (p.Pro220Ser)	PCDHA1, PCDHA2 +3 more (P220S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489547	NM_018907.4(PCDHA4):c.702T>A (p.Asp234Glu)	PCDHA1, PCDHA2 +3 more (D234E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215068	NM_018907.4(PCDHA4):c.746T>C (p.Val249Ala)	PCDHA1, PCDHA2 +3 more (V249A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304708	NM_018907.4(PCDHA4):c.940A>C (p.Lys314Gln)	PCDHA1, PCDHA2 +3 more (K314Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304704	NM_018907.4(PCDHA4):c.946T>C (p.Tyr316His)	PCDHA1, PCDHA2 +3 more (Y316H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209403	NM_018907.4(PCDHA4):c.1088C>T (p.Ala363Val)	PCDHA1, PCDHA2 +3 more (A363V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304707	NM_018907.4(PCDHA4):c.1097G>A (p.Gly366Asp)	PCDHA1, PCDHA2 +3 more (G366D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209404	NM_018907.4(PCDHA4):c.1216T>C (p.Ser406Pro)	PCDHA1, PCDHA2 +3 more (S406P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512138	NM_018907.4(PCDHA4):c.1308G>C (p.Trp436Cys)	PCDHA1, PCDHA2 +3 more (W436C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478837	NM_018907.4(PCDHA4):c.1375G>A (p.Glu459Lys)	PCDHA1, PCDHA2 +3 more (E459K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304705	NM_018907.4(PCDHA4):c.1418A>G (p.His473Arg)	PCDHA1, PCDHA2 +3 more (H473R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611526	NM_018907.4(PCDHA4):c.1490G>T (p.Arg497Leu)	PCDHA1, PCDHA2 +3 more (R497L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454404	NM_018907.4(PCDHA4):c.1504C>T (p.Arg502Cys)	PCDHA1, PCDHA2 +3 more (R502C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209405	NM_018907.4(PCDHA4):c.1568T>C (p.Leu523Pro)	PCDHA1, PCDHA2 +3 more (L523P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209406	NM_018907.4(PCDHA4):c.1575C>A (p.His525Gln)	PCDHA1, PCDHA2 +3 more (H525Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209407	NM_018907.4(PCDHA4):c.1615G>T (p.Asp539Tyr)	PCDHA1, PCDHA2 +3 more (D539Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304699	NM_018907.4(PCDHA4):c.1678G>A (p.Asp560Asn)	PCDHA1, PCDHA2 +3 more (D560N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220725	NM_018907.4(PCDHA4):c.1708G>C (p.Ala570Pro)	PCDHA1, PCDHA2 +3 more (A570P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232431	NM_018907.4(PCDHA4):c.1768G>A (p.Val590Met)	PCDHA1, PCDHA2 +3 more (V590M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304702	NM_018907.4(PCDHA4):c.1783C>A (p.Arg595Ser)	PCDHA1, PCDHA2 +3 more (R595S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260366	NM_018907.4(PCDHA4):c.1802C>T (p.Ser601Leu)	PCDHA1, PCDHA2 +3 more (S601L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275668	NM_018907.4(PCDHA4):c.1862C>T (p.Pro621Leu)	PCDHA1, PCDHA2 +3 more (P621L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484392	NM_018907.4(PCDHA4):c.1866C>A (p.Phe622Leu)	PCDHA1, PCDHA2 +3 more (F622L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304706	NM_018907.4(PCDHA4):c.1882A>C (p.Thr628Pro)	PCDHA1, PCDHA2 +3 more (T628P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484393	NM_018907.4(PCDHA4):c.1882A>G (p.Thr628Ala)	PCDHA1, PCDHA2 +3 more (T628A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209408	NM_018907.4(PCDHA4):c.1925C>T (p.Ala642Val)	PCDHA1, PCDHA2 +3 more (A642V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655755	NM_018907.4(PCDHA4):c.1937G>T (p.Arg646Leu)	PCDHA1, PCDHA2 +3 more (R646L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2486627	NM_018907.4(PCDHA4):c.1964G>A (p.Gly655Asp)	PCDHA1, PCDHA2 +3 more (G655D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304703	NM_018907.4(PCDHA4):c.1969C>T (p.Pro657Ser)	PCDHA1, PCDHA2 +3 more (P657S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343243	NM_018907.4(PCDHA4):c.1969C>A (p.Pro657Thr)	PCDHA1, PCDHA2 +3 more (P657T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209409	NM_018907.4(PCDHA4):c.1972G>T (p.Ala658Ser)	PCDHA1, PCDHA2 +3 more (A658S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209410	NM_018907.4(PCDHA4):c.2090A>G (p.Asn697Ser)	PCDHA1, PCDHA2 +3 more (N697S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229165	NM_018907.4(PCDHA4):c.2158G>A (p.Ala720Thr)	PCDHA1, PCDHA2 +3 more (A720T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209411	NM_018907.4(PCDHA4):c.2159C>T (p.Ala720Val)	PCDHA1, PCDHA2 +3 more (A720V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209413	NM_018907.4(PCDHA4):c.2189G>T (p.Gly730Val)	PCDHA1, PCDHA2 +3 more (G730V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234110	NM_018907.4(PCDHA4):c.2209C>T (p.Pro737Ser)	PCDHA1, PCDHA2 +3 more (P737S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209414	NM_018907.4(PCDHA4):c.2213C>G (p.Thr738Arg)	PCDHA1, PCDHA2 +3 more (T738R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209415	NM_018907.4(PCDHA4):c.2258A>C (p.Gln753Pro)	PCDHA1, PCDHA2 +3 more (Q753P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655756	NM_018907.4(PCDHA4):c.2268G>A (p.Pro756=)	PCDHA1, PCDHA2 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3209421	NM_018908.3(PCDHA5):c.13C>T (p.Arg5Trp)	PCDHA1, PCDHA2 +4 more (R5W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337894	NM_018908.3(PCDHA5):c.104C>G (p.Pro35Arg)	PCDHA1, PCDHA2 +4 more (P35R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363464	NM_018908.3(PCDHA5):c.122G>C (p.Gly41Ala)	PCDHA1, PCDHA2 +4 more (G41A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598278	NM_018908.3(PCDHA5):c.125C>G (p.Thr42Ser)	PCDHA1, PCDHA2 +4 more (T42S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480109	NM_018908.3(PCDHA5):c.125C>A (p.Thr42Asn)	PCDHA1, PCDHA2 +4 more (T42N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304715	NM_018908.3(PCDHA5):c.137G>T (p.Arg46Leu)	PCDHA1, PCDHA2 +4 more (R46L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569461	NM_018908.3(PCDHA5):c.193G>A (p.Val65Met)	PCDHA1, PCDHA2 +4 more (V65M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569462	NM_018908.3(PCDHA5):c.208C>G (p.Arg70Gly)	PCDHA1, PCDHA2 +4 more (R70G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209433	NM_018908.3(PCDHA5):c.266T>G (p.Ile89Ser)	PCDHA1, PCDHA2 +4 more (I89S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534425	NM_018908.3(PCDHA5):c.286C>G (p.Arg96Gly)	PCDHA1, PCDHA2 +4 more (R96G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209434	NM_018908.3(PCDHA5):c.292A>T (p.Arg98Trp)	PCDHA1, PCDHA2 +4 more (R98W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509898	NM_018908.3(PCDHA5):c.335C>T (p.Pro112Leu)	PCDHA1, PCDHA2 +4 more (P112L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209435	NM_018908.3(PCDHA5):c.417A>C (p.Leu139Phe)	PCDHA1, PCDHA2 +4 more (L139F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598887	NM_018908.3(PCDHA5):c.506A>G (p.Tyr169Cys)	PCDHA1, PCDHA2 +4 more (Y169C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293387	NM_018908.3(PCDHA5):c.598G>A (p.Asp200Asn)	PCDHA1, PCDHA2 +4 more (D200N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304714	NM_018908.3(PCDHA5):c.750G>T (p.Leu250Phe)	PCDHA1, PCDHA2 +4 more (L250F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209436	NM_018908.3(PCDHA5):c.838T>C (p.Phe280Leu)	PCDHA1, PCDHA2 +4 more (F280L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477459	NM_018908.3(PCDHA5):c.853C>T (p.Leu285Phe)	PCDHA1, PCDHA2 +4 more (L285F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304710	NM_018908.3(PCDHA5):c.952A>C (p.Asn318His)	PCDHA1, PCDHA2 +4 more (N318H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237050	NM_018908.3(PCDHA5):c.962C>T (p.Ala321Val)	PCDHA1, PCDHA2 +4 more (A321V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209437	NM_018908.3(PCDHA5):c.977C>A (p.Thr326Lys)	PCDHA1, PCDHA2 +4 more (T326K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209178	NM_018908.3(PCDHA5):c.982C>G (p.Pro328Ala)	PCDHA1, PCDHA2 +4 more (P328A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209419	NM_018908.3(PCDHA5):c.1046T>C (p.Met349Thr)	PCDHA1, PCDHA2 +4 more (M349T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365811	NM_018908.3(PCDHA5):c.1078G>A (p.Glu360Lys)	PCDHA1, PCDHA2 +4 more (E360K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312440	NM_018908.3(PCDHA5):c.1115G>C (p.Ser372Thr)	PCDHA1, PCDHA2 +4 more (S372T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3304711	NM_018908.3(PCDHA5):c.1144G>T (p.Gly382Trp)	PCDHA1, PCDHA2 +4 more (G382W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557450	NM_018908.3(PCDHA5):c.1180T>G (p.Phe394Val)	PCDHA1, PCDHA2 +4 more (F394V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386982	NM_018908.3(PCDHA5):c.1219G>A (p.Val407Met)	PCDHA1, PCDHA2 +4 more (V407M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2496353	NM_018908.3(PCDHA5):c.1253C>T (p.Ser418Leu)	PCDHA1, PCDHA2 +4 more (S418L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589401	NM_018908.3(PCDHA5):c.1447G>A (p.Ala483Thr)	PCDHA1, PCDHA2 +4 more (A483T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409204	NM_018908.3(PCDHA5):c.1496G>C (p.Gly499Ala)	PCDHA1, PCDHA2 +4 more (G499A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492614	NM_018908.3(PCDHA5):c.1504C>T (p.Pro502Ser)	PCDHA1, PCDHA2 +4 more (P502S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312906	NM_018908.3(PCDHA5):c.1519G>C (p.Val507Leu)	PCDHA1, PCDHA2 +4 more (V507L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365235	NM_018908.3(PCDHA5):c.1540G>C (p.Gly514Arg)	PCDHA1, PCDHA2 +4 more (G514R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284152	NM_018908.3(PCDHA5):c.1549T>C (p.Tyr517His)	PCDHA1, PCDHA2 +4 more (Y517H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209422	NM_018908.3(PCDHA5):c.1573G>A (p.Glu525Lys)	PCDHA1, PCDHA2 +4 more (E525K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209423	NM_018908.3(PCDHA5):c.1579G>C (p.Val527Leu)	PCDHA1, PCDHA2 +4 more (V527L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2534423	NM_018908.3(PCDHA5):c.1598A>G (p.Gln533Arg)	PCDHA1, PCDHA2 +4 more (Q533R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534424	NM_018908.3(PCDHA5):c.1622T>C (p.Val541Ala)	PCDHA1, PCDHA2 +4 more (V541A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457407	NM_018908.3(PCDHA5):c.1633G>A (p.Gly545Ser)	PCDHA1, PCDHA2 +4 more (G545S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338986	NM_018908.3(PCDHA5):c.1664T>C (p.Leu555Pro)	PCDHA1, PCDHA2 +4 more (L555P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607950	NM_018908.3(PCDHA5):c.1685C>T (p.Pro562Leu)	PCDHA1, PCDHA2 +4 more (P562L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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