"Ambry Genetics"[submitter] AND "ENPP5"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2268846	NM_001290072.2(ENPP5):c.1336G>T (p.Val446Leu)	ENPP5 (V352L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089014	NM_001290072.2(ENPP5):c.1145A>G (p.Asn382Ser)	ENPP5 (N382S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402486	NM_001290072.2(ENPP5):c.1069C>T (p.Pro357Ser)	ENPP5 (P263S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311756	NM_001290072.2(ENPP5):c.1051A>G (p.Ile351Val)	ENPP5 (I351V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264543	NM_001290072.2(ENPP5):c.956T>C (p.Val319Ala)	ENPP5 (V225A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399377	NM_001290072.2(ENPP5):c.926A>G (p.Tyr309Cys)	ENPP5 (Y215C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512896	NM_001290072.2(ENPP5):c.901G>C (p.Val301Leu)	ENPP5 (V207L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089021	NM_001290072.2(ENPP5):c.844G>A (p.Val282Ile)	ENPP5 (V188I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204235	NM_001290072.2(ENPP5):c.797A>T (p.Gln266Leu)	ENPP5 (Q266L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266966	NM_001290072.2(ENPP5):c.791T>C (p.Ile264Thr)	ENPP5 (I264T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089020	NM_001290072.2(ENPP5):c.631A>G (p.Ile211Val)	ENPP5 (I117V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089019	NM_001290072.2(ENPP5):c.612G>A (p.Met204Ile)	ENPP5 (M110I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089018	NM_001290072.2(ENPP5):c.593G>A (p.Gly198Glu)	ENPP5 (G104E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222849	NM_001290072.2(ENPP5):c.524C>T (p.Thr175Met)	ENPP5 (T175M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557758	NM_001290072.2(ENPP5):c.499G>A (p.Val167Ile)	ENPP5 (V167I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089017	NM_001290072.2(ENPP5):c.445C>T (p.Arg149Cys)	ENPP5 (R149C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337153	NM_001290072.2(ENPP5):c.400A>T (p.Ser134Cys)	ENPP5 (S40C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089016	NM_001290072.2(ENPP5):c.283A>G (p.Met95Val)	ENPP5 (M95V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389121	NM_001290072.2(ENPP5):c.162T>G (p.Ile54Met)	ENPP5 (I54M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089015	NM_001290072.2(ENPP5):c.143C>T (p.Thr48Met)	ENPP5 (T48M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459979	NM_001290072.2(ENPP5):c.142A>G (p.Thr48Ala)	ENPP5 (T48A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341803	NM_001290072.2(ENPP5):c.44T>C (p.Leu15Pro)	ENPP5 (L15P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 22