Related gene-specific medical variations for Gene (Select 57665) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3152793	NM_020905.4(RDH14):c.908T>C (p.Phe303Ser)	NT5C1B-RDH14, RDH14 (F617S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152791	NM_020905.4(RDH14):c.884T>C (p.Val295Ala)	NT5C1B-RDH14, RDH14 (V609A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152790	NM_020905.4(RDH14):c.682A>G (p.Thr228Ala)	NT5C1B-RDH14, RDH14 (T542A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152789	NM_020905.4(RDH14):c.32C>A (p.Ala11Asp)	LOC129933177, NT5C1B-RDH14 +1 more (A11D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152788	NM_020905.4(RDH14):c.296C>G (p.Pro99Arg)	LOC129933177, NT5C1B-RDH14 +1 more (P99R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152787	NM_020905.4(RDH14):c.148G>T (p.Gly50Trp)	LOC129933177, NT5C1B-RDH14 +1 more (G50W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152786	NM_020905.4(RDH14):c.113C>T (p.Pro38Leu)	LOC129933177, NT5C1B-RDH14 +1 more (P38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152785	NM_020905.4(RDH14):c.10G>C (p.Ala4Pro)	NT5C1B-RDH14, RDH14 +1 more (A4P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152784	NM_020905.4(RDH14):c.104G>A (p.Gly35Asp)	LOC129933177, NT5C1B-RDH14 +1 more (G35D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618691	NM_020905.4(RDH14):c.854C>T (p.Thr285Ile)	NT5C1B-RDH14, RDH14 (T285I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611536	NM_020905.4(RDH14):c.328A>G (p.Ile110Val)	LOC129933177, NT5C1B-RDH14 +1 more (I110V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2554525	NM_020905.4(RDH14):c.751C>T (p.Arg251Trp)	NT5C1B-RDH14, RDH14 (R565W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543900	NM_020905.4(RDH14):c.635A>T (p.Asn212Ile)	NT5C1B-RDH14, RDH14 (N212I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493551	NM_020905.4(RDH14):c.299A>G (p.Glu100Gly)	LOC129933177, NT5C1B-RDH14 +1 more (E100G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2484780	NM_020905.4(RDH14):c.538A>G (p.Lys180Glu)	NT5C1B-RDH14, RDH14 (K494E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472727	NM_020905.4(RDH14):c.335G>A (p.Arg112Gln)	LOC129933177, NT5C1B-RDH14 +1 more (R112Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469373	NM_020905.4(RDH14):c.86T>A (p.Val29Asp)	LOC129933177, NT5C1B-RDH14 +1 more (V29D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398518	NM_020905.4(RDH14):c.794A>T (p.Lys265Ile)	NT5C1B-RDH14, RDH14 (K579I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373517	NM_020905.4(RDH14):c.46G>C (p.Ala16Pro)	LOC129933177, NT5C1B-RDH14 +1 more (A16P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349894	NM_020905.4(RDH14):c.145A>G (p.Thr49Ala)	LOC129933177, NT5C1B-RDH14 +1 more (T49A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337164	NM_020905.4(RDH14):c.161G>A (p.Gly54Asp)	LOC129933177, NT5C1B-RDH14 +1 more (G54D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307903	NM_020905.4(RDH14):c.961G>T (p.Ala321Ser)	NT5C1B-RDH14, RDH14 (A321S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294683	NM_020905.4(RDH14):c.125A>G (p.His42Arg)	LOC129933177, NT5C1B-RDH14 +1 more (H42R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250965	NM_020905.4(RDH14):c.175A>G (p.Thr59Ala)	LOC129933177, NT5C1B-RDH14 +1 more (T59A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229244	NM_020905.4(RDH14):c.131A>G (p.Lys44Arg)	LOC129933177, NT5C1B-RDH14 +1 more (K44R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208488	NM_020905.4(RDH14):c.232G>A (p.Ala78Thr)	LOC129933177, NT5C1B-RDH14 +1 more (A78T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 827760	NM_020905.4(RDH14):c.114dup (p.Gly39fs)	LOC129933177, RDH14 +1 more (G39fs)	Duplication (intron variant +1 more)	Intellectual disability +1 more	GLikely pathogenic

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Links from Gene

Items: 27