Related gene-specific medical variations for Gene (Select 9326) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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_001163735.2(MYO19):c.2757+541G>A	MYO19, ZNHIT3 (Q136*)	Single nucleotide variant (nonsense +2 more)	ZNHIT3-related disorder	GBenign
Select item 3036460	NM_001163735.2(MYO19):c.2757+674_2757+676dup	MYO19, ZNHIT3	Duplication (intron variant)	ZNHIT3-related disorder	GLikely benign
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 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 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 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 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 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 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 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 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 785567	NM_001163735.2(MYO19):c.2490A>G (p.Lys830=)	MYO19, ZNHIT3	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign

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Links from Gene

Items: 20