Related gene-specific medical variations for Gene (Select 9400) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320981	NM_001162997.2(SMIM6):c.38A>C (p.Asp13Ala)	RECQL5, SMIM6 (D13A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313539	NM_004259.7(RECQL5):c.124G>A (p.Val42Ile)	LOC126862642, RECQL5 (V42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152852	NM_004259.7(RECQL5):c.25C>T (p.Pro9Ser)	LOC126862642, RECQL5 (P9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061661	NM_004259.7(RECQL5):c.130+5C>A	LOC126862642, RECQL5	Single nucleotide variant (intron variant)	RECQL5-related disorder	GLikely benign
Select item 2628521	NM_004259.7(RECQL5):c.112A>G (p.Thr38Ala)	LOC126862642, RECQL5 (T38A)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 2589392	NM_001162995.3(SMIM5):c.193C>T (p.Arg65Trp)	RECQL5, SMIM5 (R65W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558633	NM_001162997.2(ERLN):c.172G>A (p.Ala58Thr)	ERLN, RECQL5 (A58T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410009	NM_001162995.3(SMIM5):c.32G>A (p.Arg11His)	RECQL5, SMIM5 (R11H)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2388979	NM_004259.7(RECQL5):c.56C>T (p.Thr19Met)	LOC126862642, RECQL5 (T19M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382826	NM_001162997.2(ERLN):c.26C>T (p.Thr9Ile)	ERLN, RECQL5 (T9I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358202	NM_001162997.2(ERLN):c.101C>T (p.Ala34Val)	ERLN, RECQL5 (A34V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326297	NM_001162995.3(SMIM5):c.202A>G (p.Arg68Gly)	RECQL5, SMIM5 (R68G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325343	NM_001162995.3(SMIM5):c.106T>C (p.Ser36Pro)	RECQL5, SMIM5 (S36P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297873	NM_001162995.3(SMIM5):c.96C>G (p.Ile32Met)	RECQL5, SMIM5 (I32M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273687	NM_001162995.3(SMIM5):c.221C>T (p.Pro74Leu)	RECQL5, SMIM5 (P74L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260485	NM_004259.7(RECQL5):c.68T>G (p.Val23Gly)	RECQL5, LOC126862642 (V23G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234432	NM_001162997.2(ERLN):c.29T>C (p.Ile10Thr)	ERLN, RECQL5 (I10T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance