Related gene-specific medical variations for Gene (Select 255626) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283320	NM_170610.3(H2BC1):c.219G>T (p.Glu73Asp)	H2BC1, SLC17A1 (E73D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283319	NM_170610.3(H2BC1):c.220C>T (p.Arg74Cys)	H2BC1, SLC17A1 (R74C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283318	NM_170610.3(H2BC1):c.56C>T (p.Ala19Val)	H2BC1, SLC17A1 (A19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283316	NM_170610.3(H2BC1):c.17C>T (p.Ser6Phe)	H2BC1, SLC17A1 (S6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103774	NM_170610.3(H2BC1):c.92G>A (p.Arg31His)	H2BC1, SLC17A1 (R31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103773	NM_170610.3(H2BC1):c.77A>G (p.Lys26Arg)	H2BC1, SLC17A1 (K26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103772	NM_170610.3(H2BC1):c.74A>G (p.Lys25Arg)	H2BC1, SLC17A1 (K25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103771	NM_170610.3(H2BC1):c.68C>T (p.Thr23Ile)	H2BC1, SLC17A1 (T23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103770	NM_170610.3(H2BC1):c.31A>G (p.Ile11Val)	H2BC1, SLC17A1 (I11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103769	NM_170610.3(H2BC1):c.247G>T (p.Ala83Ser)	H2BC1, SLC17A1 (A83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103768	NM_170610.3(H2BC1):c.230G>A (p.Ser77Asn)	H2BC1, SLC17A1 (S77N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103767	NM_170610.3(H2BC1):c.212T>C (p.Ile71Thr)	H2BC1, SLC17A1 (I71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103766	NM_170610.3(H2BC1):c.202G>A (p.Val68Ile)	H2BC1, SLC17A1 (V68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103765	NM_170610.3(H2BC1):c.119C>G (p.Ser40Cys)	H2BC1, SLC17A1 (S40C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103764	NM_170610.3(H2BC1):c.10G>A (p.Val4Met)	H2BC1, SLC17A1 (V4M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545042	NM_170610.3(H2BC1):c.167T>C (p.Ile56Thr)	H2BC1, SLC17A1 (I56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539709	NM_170610.3(H2BC1):c.53A>G (p.Lys18Arg)	H2BC1, SLC17A1 (K18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532606	NM_170610.3(H2BC1):c.293C>T (p.Thr98Ile)	H2BC1, SLC17A1 (T98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522531	NM_170610.3(H2BC1):c.14C>T (p.Ser5Leu)	H2BC1, SLC17A1 (S5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479815	NM_170610.3(H2BC1):c.302G>T (p.Arg101Leu)	H2BC1, SLC17A1 (R101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 20