Related gene-specific medical variations for Gene (Select 80179) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306525	NM_001346754.2(PIGW):c.364G>A (p.Glu122Lys)	MYO19, PIGW (E122K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306524	NM_001346754.2(PIGW):c.941C>A (p.Ala314Glu)	MYO19, PIGW (A314E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297757	NM_001163735.2(MYO19):c.2761T>C (p.Ser921Pro)	MYO19, ZNHIT3 (S921P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297756	NM_001163735.2(MYO19):c.2432C>T (p.Thr811Ile)	MYO19, ZNHIT3 (T611I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3297755	NM_001163735.2(MYO19):c.2864G>A (p.Arg955Lys)	MYO19, ZNHIT3 (R955K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297753	NM_001163735.2(MYO19):c.2752C>A (p.Pro918Thr)	MYO19, ZNHIT3 (P918T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3297751	NM_001163735.2(MYO19):c.2585G>A (p.Arg862His)	MYO19, ZNHIT3 (R662H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3255179	NM_001346754.2(PIGW):c.1451del (p.Met484fs)	MYO19, PIGW (M484fs)	Deletion (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 3239611	NM_001163735.2(MYO19):c.2736G>A (p.Thr912=)	MYO19, ZNHIT3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3212844	NM_001346754.2(PIGW):c.1157G>A (p.Ser386Asn)	MYO19, PIGW (S386N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162873	NM_001163735.2(MYO19):c.2909G>A (p.Gly970Glu)	MYO19, ZNHIT3 (G970E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162869	NM_001163735.2(MYO19):c.2795G>A (p.Arg932Gln)	MYO19, ZNHIT3 (R732Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162868	NM_001163735.2(MYO19):c.2735C>T (p.Thr912Met)	MYO19, ZNHIT3 (T712M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162866	NM_001163735.2(MYO19):c.2696G>C (p.Ser899Thr)	MYO19, ZNHIT3 (S699T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162845	NM_001163735.2(MYO19):c.2470A>G (p.Met824Val)	MYO19, ZNHIT3 (M624V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162840	NM_001163735.2(MYO19):c.2423C>T (p.Ala808Val)	MYO19, ZNHIT3 (A808V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3056481	NM_001281432.2(ZNHIT3):c.406C>T (p.Gln136Ter)	MYO19, ZNHIT3 (Q136*)	Single nucleotide variant (nonsense +2 more)	ZNHIT3-related disorder	GBenign
Select item 3036460	NM_001281432.2(ZNHIT3):c.287-5_287-3dup	MYO19, ZNHIT3	Duplication (intron variant)	ZNHIT3-related disorder	GLikely benign
Select item 3022946	NM_001346754.2(PIGW):c.158G>A (p.Trp53Ter)	PIGW, MYO19 (W53*)	Single nucleotide variant (nonsense)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2992381	NM_001346754.2(PIGW):c.634C>T (p.Leu212=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2986227	NM_001346754.2(PIGW):c.723C>T (p.Thr241=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2981127	NM_001346754.2(PIGW):c.1449T>C (p.Tyr483=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2975533	NM_001346754.2(PIGW):c.262A>G (p.Ile88Val)	PIGW, MYO19 (I88V)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2968970	NM_001346754.2(PIGW):c.216G>A (p.Leu72=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2914461	NM_001346754.2(PIGW):c.156C>G (p.Thr52=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2896385	NM_001346754.2(PIGW):c.607T>C (p.Leu203=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2895123	NM_001346754.2(PIGW):c.723C>A (p.Thr241=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2884776	NM_001346754.2(PIGW):c.849G>A (p.Arg283=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2883453	NM_001346754.2(PIGW):c.840A>G (p.Ser280=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2880761	NM_001346754.2(PIGW):c.144T>C (p.Ser48=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2879852	NM_001346754.2(PIGW):c.1185G>A (p.Leu395=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2877528	NM_001346754.2(PIGW):c.400G>A (p.Val134Ile)	MYO19, PIGW (V134I)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2872533	NM_001346754.2(PIGW):c.924T>C (p.Ser308=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2858858	NM_001346754.2(PIGW):c.1194C>T (p.Ala398=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2857712	NM_001346754.2(PIGW):c.1476T>C (p.Tyr492=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2807882	NM_001346754.2(PIGW):c.1514G>A (p.Ter505=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2791770	NM_001346754.2(PIGW):c.759G>A (p.Leu253=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2790912	NM_001346754.2(PIGW):c.132G>A (p.Gln44=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2785137	NM_001346754.2(PIGW):c.190C>T (p.Leu64=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2782353	NM_001346754.2(PIGW):c.5C>A (p.Ser2Tyr)	MYO19, PIGW (S2Y)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2770593	NM_001346754.2(PIGW):c.750A>G (p.Pro250=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2738052	NM_001346754.2(PIGW):c.801C>T (p.Gly267=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2731652	NM_001346754.2(PIGW):c.12G>A (p.Lys4=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2730486	NM_001346754.2(PIGW):c.1359G>A (p.Leu453=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2662197	NM_001346754.2(PIGW):c.248T>G (p.Leu83Arg)	MYO19, PIGW (L83R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647691	NM_001163735.2(MYO19):c.2862A>G (p.Glu954=)	MYO19, ZNHIT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2612975	NM_001346754.2(PIGW):c.821T>C (p.Leu274Pro)	MYO19, PIGW (L274P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544897	NM_001163735.2(MYO19):c.2488A>G (p.Lys830Glu)	MYO19, ZNHIT3 (K630E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2542541	NM_001346754.2(PIGW):c.125T>G (p.Phe42Cys)	MYO19, PIGW (F42C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522884	NM_001163735.2(MYO19):c.2824C>T (p.Pro942Ser)	MYO19, ZNHIT3 (P742S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518000	NM_001163735.2(MYO19):c.2687G>A (p.Ser896Asn)	MYO19, ZNHIT3 (S696N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509915	NM_001346754.2(PIGW):c.7G>A (p.Glu3Lys)	MYO19, PIGW (E3K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502502	NM_001346754.2(PIGW):c.988C>T (p.Arg330Ter)	MYO19, PIGW (R330*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2481800	NM_001346754.2(PIGW):c.1087G>A (p.Ala363Thr)	MYO19, PIGW (A363T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434854	NM_001346754.2(PIGW):c.439G>A (p.Val147Met)	MYO19, PIGW (V147M)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2419770	NM_001346754.2(PIGW):c.1482A>G (p.Leu494=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2418556	NM_001346754.2(PIGW):c.1290A>G (p.Glu430=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2411976	NM_001163735.2(MYO19):c.2881G>A (p.Val961Met)	MYO19, ZNHIT3 (V961M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404192	NM_001346754.2(PIGW):c.238C>T (p.Leu80Phe)	MYO19, PIGW (L80F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401161	NM_001346754.2(PIGW):c.1063T>A (p.Tyr355Asn)	MYO19, PIGW (Y355N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345023	NM_001163735.2(MYO19):c.2593C>A (p.Pro865Thr)	MYO19, ZNHIT3 (P865T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318448	NM_001346754.2(PIGW):c.226G>A (p.Ala76Thr)	MYO19, PIGW (A76T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298843	NM_001163735.2(MYO19):c.2476T>C (p.Cys826Arg)	MYO19, ZNHIT3 (C626R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297023	NM_001346754.2(PIGW):c.1395G>A (p.Met465Ile)	MYO19, PIGW (M465I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277734	NM_001346754.2(PIGW):c.1423T>A (p.Trp475Arg)	MYO19, PIGW (W475R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267773	NM_001163735.2(MYO19):c.2552C>T (p.Pro851Leu)	MYO19, ZNHIT3 (P651L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2264318	NM_001163735.2(MYO19):c.2426C>G (p.Ala809Gly)	MYO19, ZNHIT3 (A809G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255915	NM_001346754.2(PIGW):c.1010T>C (p.Ile337Thr)	MYO19, PIGW (I337T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245680	NM_001163735.2(MYO19):c.2713G>A (p.Ala905Thr)	MYO19, ZNHIT3 (A705T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2233797	NM_001346754.2(PIGW):c.912A>C (p.Glu304Asp)	MYO19, PIGW (E304D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227708	NM_001346754.2(PIGW):c.695A>G (p.Tyr232Cys)	MYO19, PIGW (Y232C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220452	NM_001163735.2(MYO19):c.2668C>T (p.Leu890Phe)	MYO19, ZNHIT3 (L890F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2202189	NM_001346754.2(PIGW):c.385A>G (p.Ile129Val)	MYO19, PIGW (I129V)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2196439	NM_001346754.2(PIGW):c.643G>A (p.Gly215Arg)	MYO19, PIGW (G215R)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2195197	NM_001346754.2(PIGW):c.1178T>C (p.Ile393Thr)	MYO19, PIGW (I393T)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2194941	NM_001346754.2(PIGW):c.660A>G (p.Ile220Met)	MYO19, PIGW (I220M)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2194549	NM_001346754.2(PIGW):c.608T>C (p.Leu203Ser)	MYO19, PIGW (L203S)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2193082	NM_001346754.2(PIGW):c.906C>T (p.Asn302=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2188512	NM_001346754.2(PIGW):c.171C>T (p.Phe57=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2186490	NM_001346754.2(PIGW):c.309C>G (p.Cys103Trp)	MYO19, PIGW (C103W)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GBenign
Select item 2185456	NM_001346754.2(PIGW):c.1426G>A (p.Ala476Thr)	MYO19, PIGW (A476T)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2185395	NM_001346754.2(PIGW):c.776A>G (p.Asn259Ser)	MYO19, PIGW (N259S)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5 +1 more	GUncertain significance
Select item 2170468	NM_001346754.2(PIGW):c.1286C>T (p.Pro429Leu)	MYO19, PIGW (P429L)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2162063	NM_001346754.2(PIGW):c.1172G>A (p.Gly391Asp)	MYO19, PIGW (G391D)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2147486	NM_001346754.2(PIGW):c.55G>A (p.Val19Met)	MYO19, PIGW (V19M)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5 +1 more	GUncertain significance
Select item 2146883	NM_001346754.2(PIGW):c.907C>T (p.Arg303Cys)	MYO19, PIGW (R303C)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2140704	NM_001346754.2(PIGW):c.1411A>G (p.Ser471Gly)	MYO19, PIGW (S471G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2135569	NM_001346754.2(PIGW):c.979C>T (p.His327Tyr)	MYO19, PIGW (H327Y)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2134203	NM_001346754.2(PIGW):c.879C>T (p.Gly293=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2133370	NM_001346754.2(PIGW):c.563G>C (p.Arg188Thr)	MYO19, PIGW (R188T)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2126010	NM_001346754.2(PIGW):c.106dup (p.Arg36fs)	MYO19, PIGW (R36fs)	Duplication (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2124336	NM_001346754.2(PIGW):c.102G>A (p.Leu34=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2114470	NM_001346754.2(PIGW):c.294C>T (p.Tyr98=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2112545	NM_001346754.2(PIGW):c.547C>G (p.Leu183Val)	MYO19, PIGW (L183V)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2106966	NM_001346754.2(PIGW):c.323C>T (p.Pro108Leu)	MYO19, PIGW (P108L)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2105535	NM_001346754.2(PIGW):c.1062_1063del (p.Tyr355fs)	MYO19, PIGW (Y355fs)	Deletion (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2102580	NM_001346754.2(PIGW):c.1307C>A (p.Pro436His)	PIGW, MYO19 (P436H)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2101101	NM_001346754.2(PIGW):c.728T>C (p.Ile243Thr)	MYO19, PIGW (I243T)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2099691	NM_001346754.2(PIGW):c.147T>C (p.Phe49=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2095276	NM_001346754.2(PIGW):c.1238T>G (p.Leu413Arg)	MYO19, PIGW (L413R)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance

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