ClinVar for Gene (Select 80179) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338433	GRCh37/hg19 17q12(chr17:34842442-36065085)x3	AATF, ACACA +13 more	Copy number gain	Hyperphosphatasia with intellectual disability syndrome 5	GLikely pathogenic
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 3297754	NM_001163735.2(MYO19):c.1043T>C (p.Met348Thr)	MYO19 (M348T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3297752	NM_001163735.2(MYO19):c.1880A>G (p.Gln627Arg)	MYO19 (Q627R)	Single nucleotide variant (missense variant +1 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 3297750	NM_001163735.2(MYO19):c.1904A>C (p.Glu635Ala)	MYO19 (E635A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297749	NM_001163735.2(MYO19):c.1090C>T (p.Arg364Trp)	MYO19 (R364W)	Single nucleotide variant (missense variant)	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 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 3162903	NM_001163735.2(MYO19):c.773G>T (p.Gly258Val)	MYO19 (G258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162900	NM_001163735.2(MYO19):c.67G>T (p.Asp23Tyr)	MYO19 (D23Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162897	NM_001163735.2(MYO19):c.537G>A (p.Met179Ile)	MYO19 (M179I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162893	NM_001163735.2(MYO19):c.428G>A (p.Arg143His)	MYO19 (R143H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162885	NM_001163735.2(MYO19):c.382A>C (p.Ile128Leu)	MYO19 (I128L)	Single nucleotide variant (missense variant)	not specified	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 3162834	NM_001163735.2(MYO19):c.2308G>A (p.Gly770Ser)	MYO19 (G570S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162830	NM_001163735.2(MYO19):c.2297G>A (p.Arg766His)	MYO19 (R566H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162828	NM_001163735.2(MYO19):c.2293G>C (p.Ala765Pro)	MYO19 (A565P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162824	NM_001163735.2(MYO19):c.2269C>T (p.Arg757Cys)	MYO19 (R557C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162812	NM_001163735.2(MYO19):c.194A>T (p.Tyr65Phe)	MYO19 (Y65F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162809	NM_001163735.2(MYO19):c.1852C>T (p.Arg618Cys)	MYO19 (R618C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162804	NM_001163735.2(MYO19):c.1708C>G (p.Leu570Val)	MYO19 (L570V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162795	NM_001163735.2(MYO19):c.1567C>T (p.Arg523Trp)	MYO19 (R523W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162779	NM_001163735.2(MYO19):c.1427T>C (p.Ile476Thr)	MYO19 (I476T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162776	NM_001163735.2(MYO19):c.1423C>G (p.Leu475Val)	MYO19 (L475V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162772	NM_001163735.2(MYO19):c.1361A>G (p.Tyr454Cys)	MYO19 (Y454C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162752	NM_001163735.2(MYO19):c.1210G>A (p.Asp404Asn)	MYO19 (D404N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162747	NM_001163735.2(MYO19):c.1149C>G (p.Ile383Met)	MYO19 (I383M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162743	NM_001163735.2(MYO19):c.1106G>A (p.Arg369Gln)	MYO19 (R369Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162738	NM_001163735.2(MYO19):c.1102G>A (p.Ala368Thr)	MYO19 (A368T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162733	NM_001163735.2(MYO19):c.1067C>G (p.Ala356Gly)	MYO19 (A356G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148907	GRCh37/hg19 17q12(chr17:34822466-36378678)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 3148903	GRCh37/hg19 17q12(chr17:34822466-36307773)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 3063498	GRCh37/hg19 17q12(chr17:34425362-36371146)x3	AATF, ACACA +23 more	Copy number gain	not specified	GPathogenic
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 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	LOC110120863, LOC112529910 +34 more	Copy number loss	Autism spectrum disorder	GPathogenic
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 2684846	GRCh37/hg19 17q12(chr17:34440083-36410559)x3	AATF, ACACA +22 more	Copy number gain	not provided	GPathogenic
Select item 2671580	Single allele	AATF, ACACA +13 more	Deletion	not provided	GPathogenic
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 2622413	NM_001163735.2(MYO19):c.953C>T (p.Ala318Val)	MYO19 (A318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622412	NM_001163735.2(MYO19):c.178A>G (p.Met60Val)	MYO19 (M60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619410	NM_001163735.2(MYO19):c.368C>A (p.Pro123Gln)	MYO19 (P123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614145	NM_001163735.2(MYO19):c.133C>T (p.Pro45Ser)	MYO19 (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2611878	NM_001163735.2(MYO19):c.2183C>T (p.Ser728Leu)	MYO19 (S728L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610996	NM_001163735.2(MYO19):c.104A>C (p.Tyr35Ser)	MYO19 (Y35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609936	NM_001163735.2(MYO19):c.2323C>T (p.His775Tyr)	MYO19 (H575Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580315	GRCh37/hg19 17q12(chr17:34752221-36105007)x3	AATF, ACACA +14 more	Copy number gain	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2579204	GRCh38/hg38 17q12(chr17:36486532-37745203)x1	AATF, ACACA +32 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2557804	NM_001163735.2(MYO19):c.1304A>G (p.Asn435Ser)	MYO19 (N435S)	Single nucleotide variant (missense variant)	not specified	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 2531432	NM_001163735.2(MYO19):c.1030G>T (p.Val344Leu)	MYO19 (V344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525399	NM_001163735.2(MYO19):c.1592A>G (p.His531Arg)	MYO19 (H531R)	Single nucleotide variant (missense variant +1 more)	not specified	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 2521980	NM_001163735.2(MYO19):c.1513C>T (p.Arg505Cys)	MYO19 (R505C)	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 2517985	NM_001163735.2(MYO19):c.382A>G (p.Ile128Val)	MYO19 (I128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515265	NM_001163735.2(MYO19):c.2197C>A (p.Pro733Thr)	MYO19 (P733T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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