Related gene-specific medical variations for Gene (Select 9604) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3209140	NM_016580.4(PCDH12):c.2527C>A (p.Gln843Lys)	PCDH12, RNF14 (Q843K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209139	NM_016580.4(PCDH12):c.2459C>T (p.Pro820Leu)	PCDH12, RNF14 (P820L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209138	NM_016580.4(PCDH12):c.2429C>T (p.Pro810Leu)	RNF14, PCDH12 (P810L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209137	NM_016580.4(PCDH12):c.2085T>G (p.Phe695Leu)	PCDH12, RNF14 (F695L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209136	NM_016580.4(PCDH12):c.1877C>A (p.Ala626Glu)	PCDH12, RNF14 (A626E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209134	NM_016580.4(PCDH12):c.114G>C (p.Glu38Asp)	PCDH12, RNF14 (E38D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075985	NM_016580.4(PCDH12):c.954C>A (p.Tyr318Ter)	PCDH12, RNF14 (Y318*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia	GLikely pathogenic
Select item 3032175	NM_016580.4(PCDH12):c.1590C>G (p.Gly530=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	PCDH12-related condition	GLikely benign
Select item 2990424	NM_016580.4(PCDH12):c.236T>C (p.Val79Ala)	PCDH12, RNF14 (V79A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2970905	NM_016580.4(PCDH12):c.1839C>T (p.Ser613=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966552	NM_016580.4(PCDH12):c.2793C>A (p.Ile931=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966524	NM_016580.4(PCDH12):c.2221C>T (p.Arg741Trp)	PCDH12, RNF14 (R741W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2913346	NM_016580.4(PCDH12):c.930A>G (p.Leu310=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911183	NM_016580.4(PCDH12):c.2505G>A (p.Pro835=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907694	NM_016580.4(PCDH12):c.2154G>A (p.Thr718=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907680	NM_016580.4(PCDH12):c.2832C>T (p.Ala944=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906646	NM_016580.4(PCDH12):c.174G>A (p.Arg58=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904061	NM_016580.4(PCDH12):c.1059C>T (p.His353=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902671	NM_016580.4(PCDH12):c.2667G>A (p.Arg889=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891624	NM_016580.4(PCDH12):c.1734C>T (p.Ser578=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891623	NM_016580.4(PCDH12):c.2781G>A (p.Gly927=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890296	NM_016580.4(PCDH12):c.458G>A (p.Arg153Gln)	PCDH12, RNF14 (R153Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2889225	NM_016580.4(PCDH12):c.2136G>A (p.Leu712=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879116	NM_016580.4(PCDH12):c.1575T>C (p.Tyr525=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874369	NM_016580.4(PCDH12):c.663C>T (p.Asn221=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869007	NM_016580.4(PCDH12):c.976G>C (p.Asp326His)	PCDH12, RNF14 (D326H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854791	NM_016580.4(PCDH12):c.1110C>T (p.Asp370=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845705	NM_016580.4(PCDH12):c.2619C>T (p.Gly873=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835775	NM_016580.4(PCDH12):c.2978+15G>A	PCDH12, RNF14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793029	NM_016580.4(PCDH12):c.562C>A (p.Pro188Thr)	PCDH12, RNF14 (P188T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778216	NM_016580.4(PCDH12):c.1182C>T (p.Ser394=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775868	NM_016580.4(PCDH12):c.2016G>A (p.Glu672=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751642	NM_016580.4(PCDH12):c.831G>A (p.Gly277=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2741083	NM_016580.4(PCDH12):c.728C>T (p.Ala243Val)	PCDH12, RNF14 (A243V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2704987	NM_016580.4(PCDH12):c.309C>T (p.Pro103=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690666	NM_016580.4(PCDH12):c.1082C>G (p.Ser361Ter)	PCDH12, RNF14 (S361*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GLikely pathogenic
Select item 2655873	NM_016580.4(PCDH12):c.1236G>A (p.Leu412=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655872	NM_016580.4(PCDH12):c.1734C>G (p.Ser578=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608965	NM_016580.4(PCDH12):c.298C>G (p.Gln100Glu)	PCDH12, RNF14 (Q100E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552574	NM_016580.4(PCDH12):c.1136A>G (p.Asp379Gly)	PCDH12, RNF14 (D379G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547137	NM_016580.4(PCDH12):c.1106A>G (p.Lys369Arg)	PCDH12, RNF14 (K369R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535967	NM_016580.4(PCDH12):c.1781C>T (p.Thr594Ile)	PCDH12, RNF14 (T594I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507988	NM_016580.4(PCDH12):c.271C>T (p.Arg91Trp)	PCDH12, RNF14 (R91W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493873	NM_016580.4(PCDH12):c.2950A>C (p.Lys984Gln)	PCDH12, RNF14 (K984Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493182	NM_016580.4(PCDH12):c.214C>T (p.Pro72Ser)	PCDH12, RNF14 (P72S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477137	NM_016580.4(PCDH12):c.2368G>A (p.Glu790Lys)	PCDH12, RNF14 (E790K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466843	NM_016580.4(PCDH12):c.164G>A (p.Arg55Gln)	PCDH12, RNF14 (R55Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464982	NM_016580.4(PCDH12):c.2627G>A (p.Arg876His)	PCDH12, RNF14 (R876H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443508	NM_016580.4(PCDH12):c.1235T>C (p.Leu412Ser)	PCDH12, RNF14 (L412S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434599	NM_016580.4(PCDH12):c.3043G>A (p.Glu1015Lys)	PCDH12, RNF14 (E1015K)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GUncertain significance
Select item 2419427	NM_016580.4(PCDH12):c.2356G>C (p.Gly786Arg)	PCDH12, RNF14 (G786R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418109	NM_016580.4(PCDH12):c.2258G>A (p.Arg753Gln)	PCDH12, RNF14 (R753Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2408951	NM_016580.4(PCDH12):c.2153C>T (p.Thr718Met)	PCDH12, RNF14 (T718M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408264	NM_016580.4(PCDH12):c.1171T>A (p.Cys391Ser)	PCDH12, RNF14 (C391S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371420	NM_016580.4(PCDH12):c.2743C>A (p.His915Asn)	PCDH12, RNF14 (H915N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2341138	NM_016580.4(PCDH12):c.995T>A (p.Ile332Asn)	PCDH12, RNF14 (I332N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2326469	NM_016580.4(PCDH12):c.787C>T (p.Leu263Phe)	PCDH12, RNF14 (L263F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319872	NM_016580.4(PCDH12):c.862C>G (p.Pro288Ala)	PCDH12, RNF14 (P288A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314232	NM_016580.4(PCDH12):c.281G>C (p.Arg94Pro)	PCDH12, RNF14 (R94P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310039	NM_016580.4(PCDH12):c.2398A>G (p.Lys800Glu)	PCDH12, RNF14 (K800E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307279	NM_016580.4(PCDH12):c.1799C>T (p.Pro600Leu)	PCDH12, RNF14 (P600L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281141	NM_016580.4(PCDH12):c.316G>C (p.Val106Leu)	PCDH12, RNF14 (V106L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280684	NM_016580.4(PCDH12):c.251G>A (p.Gly84Asp)	PCDH12, RNF14 (G84D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253358	NM_016580.4(PCDH12):c.919C>T (p.Arg307Cys)	PCDH12, RNF14 (R307C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241860	NM_016580.4(PCDH12):c.2266G>A (p.Glu756Lys)	PCDH12, RNF14 (E756K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237073	NM_016580.4(PCDH12):c.133G>A (p.Val45Met)	PCDH12, RNF14 (V45M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219233	NM_016580.4(PCDH12):c.2332G>A (p.Val778Met)	PCDH12, RNF14 (V778M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217255	NM_016580.4(PCDH12):c.2120G>A (p.Arg707His)	PCDH12, RNF14 (R707H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200678	NM_016580.4(PCDH12):c.3052C>A (p.Pro1018Thr)	PCDH12, RNF14 (P1018T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2198746	NM_016580.4(PCDH12):c.1553C>T (p.Thr518Ile)	PCDH12, RNF14 (T518I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190812	NM_016580.4(PCDH12):c.1578A>G (p.Glu526=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188702	NM_016580.4(PCDH12):c.2905C>A (p.Leu969Met)	PCDH12, RNF14 (L969M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186603	NM_016580.4(PCDH12):c.2785C>T (p.Arg929Cys)	PCDH12, RNF14 (R929C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184121	NM_016580.4(PCDH12):c.1828A>G (p.Thr610Ala)	RNF14, PCDH12 (T610A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176358	NM_016580.4(PCDH12):c.296G>A (p.Arg99Gln)	PCDH12, RNF14 (R99Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2175178	NM_016580.4(PCDH12):c.1976A>G (p.Asn659Ser)	PCDH12, RNF14 (N659S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170454	NM_016580.4(PCDH12):c.2942G>A (p.Arg981Gln)	PCDH12, RNF14 (R981Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169462	NM_016580.4(PCDH12):c.1349T>C (p.Ile450Thr)	PCDH12, RNF14 (I450T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2166274	NM_016580.4(PCDH12):c.258C>T (p.Leu86=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164535	NM_016580.4(PCDH12):c.2021A>C (p.Glu674Ala)	PCDH12, RNF14 (E674A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2148545	NM_016580.4(PCDH12):c.1996C>T (p.Leu666Phe)	PCDH12, RNF14 (L666F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144856	NM_016580.4(PCDH12):c.2845G>A (p.Val949Met)	RNF14, PCDH12 (V949M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138035	NM_016580.4(PCDH12):c.1588G>A (p.Gly530Ser)	PCDH12, RNF14 (G530S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128033	NM_016580.4(PCDH12):c.2912A>G (p.Gln971Arg)	PCDH12, RNF14 (Q971R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126539	NM_016580.4(PCDH12):c.2763C>T (p.Ser921=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126093	NM_016580.4(PCDH12):c.2802C>A (p.Ser934Arg)	PCDH12, RNF14 (S934R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124338	NM_016580.4(PCDH12):c.191_192dup (p.Ala65fs)	PCDH12, RNF14 (A65fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2124195	NM_016580.4(PCDH12):c.816C>A (p.Asp272Glu)	PCDH12, RNF14 (D272E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123287	NM_016580.4(PCDH12):c.188G>A (p.Gly63Glu)	PCDH12, RNF14 (G63E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118165	NM_016580.4(PCDH12):c.711C>T (p.Ser237=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113519	NM_016580.4(PCDH12):c.69T>C (p.Asp23=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106565	NM_016580.4(PCDH12):c.2471G>A (p.Arg824Lys)	PCDH12, RNF14 (R824K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096310	NM_016580.4(PCDH12):c.348G>T (p.Leu116Phe)	PCDH12, RNF14 (L116F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089645	NM_016580.4(PCDH12):c.52T>C (p.Leu18=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085519	NM_016580.4(PCDH12):c.2713G>A (p.Ala905Thr)	PCDH12, RNF14 (A905T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2081714	NM_016580.4(PCDH12):c.1406C>T (p.Thr469Met)	PCDH12, RNF14 (T469M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2081651	NM_016580.4(PCDH12):c.1099C>T (p.Leu367Phe)	PCDH12, RNF14 (L367F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081226	NM_016580.4(PCDH12):c.1492C>T (p.Arg498Cys)	PCDH12, RNF14 (R498C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2077460	NM_016580.4(PCDH12):c.1884G>A (p.Ser628=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077141	NM_016580.4(PCDH12):c.1816C>G (p.Pro606Ala)	PCDH12, RNF14 (P606A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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