Related gene-specific medical variations for Gene (Select 116211) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326462	NM_138461.4(TM4SF19):c.7T>G (p.Ser3Ala)	TM4SF19, TM4SF19-DYNLT2B (S3A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3326461	NM_138461.4(TM4SF19):c.535G>A (p.Ala179Thr)	TM4SF19, TM4SF19-AS1 +1 more (A179T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3326460	NM_138461.4(TM4SF19):c.*42C>T	TM4SF19, TM4SF19-AS1 +1 more (S223L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3178113	NM_138461.4(TM4SF19):c.*87A>G	TM4SF19, TM4SF19-AS1 +1 more (N238S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178112	NM_138461.4(TM4SF19):c.591C>T (p.Asn197=)	TM4SF19, TM4SF19-AS1 +1 more (T196I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3178111	NM_138461.4(TM4SF19):c.556C>T (p.Leu186Phe)	TM4SF19, TM4SF19-AS1 +1 more (L186F +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3178110	NM_138461.4(TM4SF19):c.534C>T (p.Ser178=)	TM4SF19, TM4SF19-AS1 +1 more (P177L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3178109	NM_138461.4(TM4SF19):c.47G>A (p.Arg16His)	TM4SF19, TM4SF19-DYNLT2B (R16H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3178108	NM_138461.4(TM4SF19):c.457C>G (p.Leu153Val)	TM4SF19, TM4SF19-AS1 +1 more (L127V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3178107	NM_138461.4(TM4SF19):c.37A>G (p.Thr13Ala)	TM4SF19, TM4SF19-DYNLT2B (T13A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3178106	NM_138461.4(TM4SF19):c.34C>T (p.Arg12Trp)	TM4SF19, TM4SF19-DYNLT2B (R12W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3178105	NM_138461.4(TM4SF19):c.242G>C (p.Arg81Thr)	TM4SF19, TM4SF19-DYNLT2B (R81T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3178104	NM_138461.4(TM4SF19):c.14C>A (p.Pro5His)	TM4SF19, TM4SF19-DYNLT2B (P5H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2690240	NM_138461.4(TM4SF19):c.41dup (p.Cys14fs)	TM4SF19, TM4SF19-DYNLT2B (C14fs)	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2554169	NM_138461.4(TM4SF19):c.17G>T (p.Cys6Phe)	TM4SF19, TM4SF19-DYNLT2B (C6F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2520777	NM_138461.4(TM4SF19):c.35G>A (p.Arg12Gln)	TM4SF19, TM4SF19-DYNLT2B (R12Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2516641	NM_138461.4(TM4SF19):c.127G>A (p.Val43Ile)	TM4SF19, TM4SF19-DYNLT2B (V43I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2356032	NM_138461.4(TM4SF19):c.178G>A (p.Gly60Arg)	TM4SF19, TM4SF19-DYNLT2B (G60R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2352857	NM_138461.4(TM4SF19):c.202G>T (p.Val68Leu)	TM4SF19, TM4SF19-DYNLT2B (V68L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2347368	NM_138461.4(TM4SF19):c.407A>G (p.Gln136Arg)	TM4SF19, TM4SF19-AS1 +1 more (Q136R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2345335	NM_138461.4(TM4SF19):c.275G>A (p.Arg92Gln)	TM4SF19, TM4SF19-DYNLT2B (R92Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2313941	NM_138461.4(TM4SF19):c.*8A>G	TM4SF19, TM4SF19-AS1 +1 more (N212D)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2274069	NM_138461.4(TM4SF19):c.125A>T (p.Asp42Val)	TM4SF19, TM4SF19-DYNLT2B (D42V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 252782	NM_138461.4(TM4SF19):c.88G>C (p.Ala30Pro)	TM4SF19, TM4SF19-DYNLT2B (A30P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance

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Links from Gene

Items: 24