DCBLD1[gene] and "single gene"[properties] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271020	NM_001366458.2(DCBLD1):c.247A>G (p.Arg83Gly)	DCBLD1 (R83G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080372	NM_001366458.2(DCBLD1):c.295C>G (p.Leu99Val)	DCBLD1 (L99V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532048	NM_001366458.2(DCBLD1):c.305C>T (p.Thr102Ile)	DCBLD1 (T102I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294657	NM_001366458.2(DCBLD1):c.314C>T (p.Ser105Leu)	DCBLD1 (S105L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080373	NM_001366458.2(DCBLD1):c.377G>A (p.Ser126Asn)	DCBLD1 (S126N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2570225	NM_001366458.2(DCBLD1):c.451G>A (p.Asp151Asn)	DCBLD1 (D151N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2347686	NM_001366458.2(DCBLD1):c.457C>T (p.Pro153Ser)	DCBLD1 (P153S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271022	NM_001366458.2(DCBLD1):c.556T>C (p.Ser186Pro)	DCBLD1 (S186P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375463	NM_001366458.2(DCBLD1):c.567G>A (p.Met189Ile)	DCBLD1 (M189I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375464	NM_001366458.2(DCBLD1):c.568G>A (p.Val190Ile)	DCBLD1 (V190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461228	NM_001366458.2(DCBLD1):c.582A>C (p.Arg194Ser)	DCBLD1 (R194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080375	NM_001366458.2(DCBLD1):c.646C>G (p.Gln216Glu)	DCBLD1 (Q216E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253000	NM_001366458.2(DCBLD1):c.664C>T (p.Arg222Cys)	DCBLD1 (R222C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271019	NM_001366458.2(DCBLD1):c.905G>A (p.Gly302Asp)	DCBLD1 (G302D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474220	NM_001366458.2(DCBLD1):c.954G>T (p.Leu318Phe)	DCBLD1 (L318F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080376	NM_001366458.2(DCBLD1):c.974C>G (p.Thr325Arg)	DCBLD1 (T325R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080377	NM_001366458.2(DCBLD1):c.984G>T (p.Arg328Ser)	DCBLD1 (R328S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080369	NM_001366458.2(DCBLD1):c.1058C>A (p.Ser353Tyr)	DCBLD1 (S353Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080370	NM_001366458.2(DCBLD1):c.1102G>T (p.Val368Leu)	DCBLD1 (V368L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271021	NM_001366458.2(DCBLD1):c.1127G>A (p.Arg376Gln)	DCBLD1 (R376Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605323	NM_001366458.2(DCBLD1):c.1174G>A (p.Val392Met)	DCBLD1 (V392M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370787	NM_001366458.2(DCBLD1):c.1271G>A (p.Arg424His)	DCBLD1 (R424H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2260955	NM_001366458.2(DCBLD1):c.1349C>T (p.Thr450Ile)	DCBLD1 (T450I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393843	NM_001366458.2(DCBLD1):c.1370C>G (p.Thr457Arg)	DCBLD1 (T457R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080371	NM_001366458.2(DCBLD1):c.1375G>A (p.Val459Met)	DCBLD1 (V459M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2538800	NM_001366458.2(DCBLD1):c.1381A>G (p.Ile461Val)	DCBLD1 (I461V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271018	NM_001366458.2(DCBLD1):c.1468T>C (p.Tyr490His)	DCBLD1 (Y490H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408955	NM_001366458.2(DCBLD1):c.1523T>C (p.Phe508Ser)	DCBLD1 (F508S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 28