Related gene-specific medical variations for Gene (Select 56135) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044886	NM_018904.3(PCDHA13):c.2802C>T (p.Thr934=)	PCDHA1, PCDHA10 +15 more	Single nucleotide variant (synonymous variant)	PCDHA13-related condition	GBenign
Select item 3044804	NM_018904.3(PCDHA13):c.2543-9_2543-8del	PCDHA1, PCDHA10 +15 more	Deletion (intron variant)	PCDHA13-related condition	GLikely benign
Select item 2673031	NM_018899.6(PCDHAC2):c.1911G>A (p.Leu637=)	PCDHA1, PCDHA10 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655805	NM_018899.6(PCDHAC2):c.2460G>A (p.Ser820=)	PCDHA1, PCDHA10 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655804	NM_018899.6(PCDHAC2):c.1161C>G (p.Leu387=)	PCDHA1, PCDHA10 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655803	NM_018899.6(PCDHAC2):c.480G>T (p.Ser160=)	PCDHA1, PCDHA10 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655802	NM_018898.5(PCDHAC1):c.1671T>C (p.Phe557=)	PCDHA9, PCDHA@ +13 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622061	NM_018898.5(PCDHAC1):c.1771G>T (p.Gly591Cys)	PCDHA2, PCDHA3 +13 more (G591C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619201	NM_018899.6(PCDHAC2):c.2207C>A (p.Ala736Glu)	PCDHA1, PCDHA13 +14 more (A736E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616131	NM_018898.5(PCDHAC1):c.604G>A (p.Val202Met)	PCDHA1, PCDHA10 +13 more (V202M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612504	NM_018898.5(PCDHAC1):c.1195A>T (p.Ile399Phe)	PCDHA6, PCDHA7 +13 more (I399F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608214	NM_018899.6(PCDHAC2):c.1582A>G (p.Ser528Gly)	PCDHA1, PCDHA10 +14 more (S528G)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606714	NM_018898.5(PCDHAC1):c.1735T>G (p.Leu579Val)	PCDHA11, PCDHA12 +13 more (L579V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605385	NM_018898.5(PCDHAC1):c.1067G>A (p.Gly356Asp)	PCDHA10, PCDHA11 +13 more (G356D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605063	NM_018898.5(PCDHAC1):c.1915C>T (p.Arg639Trp)	PCDHA13, PCDHA2 +13 more (R639W)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600086	NM_018898.5(PCDHAC1):c.856G>A (p.Val286Met)	PCDHA6, PCDHA7 +13 more (V286M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599953	NM_018898.5(PCDHAC1):c.989T>C (p.Val330Ala)	PCDHA13, PCDHA2 +13 more (V330A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588412	NM_018899.6(PCDHAC2):c.2197C>T (p.Arg733Cys)	PCDHA1, PCDHA10 +14 more (R733C)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546901	NM_018898.5(PCDHAC1):c.1208T>A (p.Leu403Gln)	PCDHA1, PCDHA10 +13 more (L403Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528641	NM_018898.5(PCDHAC1):c.1459G>A (p.Val487Ile)	PCDHA1, PCDHA4 +13 more (V487I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2495327	NM_018899.6(PCDHAC2):c.776A>G (p.Gln259Arg)	PCDHA2, PCDHA7 +14 more (Q259R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493417	NM_018898.5(PCDHAC1):c.1999T>A (p.Phe667Ile)	PCDHA6, PCDHA9 +13 more (F667I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492323	NM_018898.5(PCDHAC1):c.2018C>G (p.Pro673Arg)	PCDHA3, PCDHA4 +13 more (P673R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491880	NM_018898.5(PCDHAC1):c.517A>G (p.Met173Val)	PCDHA1, PCDHA10 +13 more (M173V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489823	NM_018898.5(PCDHAC1):c.1123G>C (p.Val375Leu)	PCDHA1, PCDHA10 +13 more (V375L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394566	NM_018898.5(PCDHAC1):c.540C>G (p.Ser180Arg)	PCDHA12, PCDHA8 +13 more (S180R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393841	NM_018898.5(PCDHAC1):c.1222A>C (p.Ile408Leu)	PCDHA7, PCDHA5 +13 more (I408L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390226	NM_018899.6(PCDHAC2):c.1292G>A (p.Arg431Gln)	PCDHA1, PCDHA2 +14 more (R431Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388925	NM_018898.5(PCDHAC1):c.187G>C (p.Glu63Gln)	PCDHA@, PCDHA1 +13 more (E63Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381300	NM_018899.6(PCDHAC2):c.1349C>T (p.Thr450Ile)	PCDHAC2, PCDHA5 +14 more (T450I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377663	NM_018898.5(PCDHAC1):c.973A>G (p.Lys325Glu)	PCDHA3, PCDHA5 +13 more (K325E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364742	NM_018899.6(PCDHAC2):c.2252G>A (p.Arg751Lys)	PCDHA8, PCDHA1 +14 more (R751K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363813	NM_018899.6(PCDHAC2):c.2038G>T (p.Val680Leu)	PCDHA6, PCDHA9 +14 more (V680L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349480	NM_018898.5(PCDHAC1):c.452A>G (p.Asp151Gly)	PCDHA2, PCDHAC1 +13 more (D151G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338603	NM_018898.5(PCDHAC1):c.1165G>T (p.Ala389Ser)	PCDHA13, PCDHA8 +13 more (A389S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335013	NM_018899.6(PCDHAC2):c.2212G>T (p.Gly738Cys)	PCDHA13, PCDHA9 +14 more (G738C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334108	NM_018899.6(PCDHAC2):c.1589G>C (p.Ser530Thr)	PCDHA12, PCDHA1 +14 more (S530T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331542	NM_018899.6(PCDHAC2):c.1067T>G (p.Val356Gly)	PCDHA5, PCDHA1 +14 more (V356G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325650	NM_018898.5(PCDHAC1):c.2224A>G (p.Ile742Val)	PCDHA9, PCDHA5 +13 more (I742V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2310990	NM_018898.5(PCDHAC1):c.1649A>G (p.Asp550Gly)	PCDHA6, PCDHA4 +13 more (D550G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305638	NM_018898.5(PCDHAC1):c.2043C>G (p.Asn681Lys)	PCDHA3, PCDHA6 +13 more (N681K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304757	NM_018898.5(PCDHAC1):c.106G>T (p.Val36Leu)	PCDHA11, PCDHA4 +13 more (V36L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292341	NM_018899.6(PCDHAC2):c.406G>A (p.Val136Met)	PCDHA11, PCDHA1 +14 more (V136M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289776	NM_018898.5(PCDHAC1):c.1204C>A (p.Pro402Thr)	PCDHA8, PCDHA9 +13 more (P402T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282996	NM_018898.5(PCDHAC1):c.143C>A (p.Ala48Asp)	PCDHA4, PCDHA9 +13 more (A48D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282337	NM_018898.5(PCDHAC1):c.778C>A (p.Pro260Thr)	PCDHA13, PCDHA6 +13 more (P260T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281920	NM_018899.6(PCDHAC2):c.1195A>C (p.Lys399Gln)	PCDHA@, PCDHA11 +14 more (K399Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277523	NM_018898.5(PCDHAC1):c.881A>G (p.Gln294Arg)	PCDHA10, PCDHA7 +13 more (Q294R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2274541	NM_018898.5(PCDHAC1):c.1748T>C (p.Val583Ala)	PCDHA10, PCDHA9 +13 more (V583A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271141	NM_018899.6(PCDHAC2):c.1904T>C (p.Val635Ala)	PCDHAC1, PCDHA12 +14 more (V635A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251074	NM_018898.5(PCDHAC1):c.535G>A (p.Gly179Ser)	PCDHA3, PCDHA4 +13 more (G179S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245872	NM_018899.6(PCDHAC2):c.811C>T (p.Pro271Ser)	PCDHA5, PCDHAC1 +14 more (P271S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242090	NM_018898.5(PCDHAC1):c.941A>G (p.Asp314Gly)	PCDHA10, PCDHA6 +13 more (D314G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238595	NM_018899.6(PCDHAC2):c.1193G>A (p.Arg398Gln)	PCDHA4, PCDHA12 +14 more (R398Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236043	NM_018899.6(PCDHAC2):c.682A>G (p.Thr228Ala)	PCDHA@, PCDHA10 +14 more (T228A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235172	NM_018899.6(PCDHAC2):c.2111T>C (p.Ile704Thr)	PCDHA9, PCDHA1 +14 more (I704T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229120	NM_018898.5(PCDHAC1):c.1517C>T (p.Ala506Val)	PCDHA10, PCDHA5 +13 more (A506V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228869	NM_018898.5(PCDHAC1):c.827C>A (p.Thr276Lys)	PCDHA11, PCDHA7 +13 more (T276K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226362	NM_018899.6(PCDHAC2):c.1387A>G (p.Asn463Asp)	PCDHA@, PCDHAC1 +14 more (N463D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213188	NM_018898.5(PCDHAC1):c.2236A>G (p.Thr746Ala)	PCDHA5, PCDHA9 +13 more (T746A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204470	NM_018898.5(PCDHAC1):c.492C>G (p.Ser164Arg)	PCDHA9, PCDHA3 +13 more (S164R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1123255	NM_018907.4(PCDHA4):c.2499T>A (p.Asp833Glu)	PCDHA1, PCDHA7 +15 more (D571E +10 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 770914	NM_018903.4(PCDHA12):c.2492C>G (p.Pro831Arg)	PCDHA1, PCDHA10 +15 more (P576R +10 more)	Single nucleotide variant (missense variant)	PCDHA9-related condition +1 more	GBenign/Likely benign
Select item 745976	NM_031857.2(PCDHA9):c.2406C>G (p.Pro802=)	PCDHA10, PCDHA11 +15 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710264	NM_018899.6(PCDHAC2):c.2841C>A (p.Ile947=)	PCDHA1, PCDHA3 +15 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708061	NM_018904.3(PCDHA13):c.2613C>T (p.Tyr871=)	PCDHA1, PCDHA10 +15 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 279578	NM_018900.4(PCDHA1):c.2420G>A (p.Arg807His)	PCDHA3, PCDHA4 +15 more (R543H +10 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 92001	NM_018898.5(PCDHAC1):c.2396G>A (p.Arg799Gln)	PCDHA1, PCDHA10 +13 more (R799Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 68