SLC7A8[gene] and "single gene"[properties] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2237834	NM_012244.4(SLC7A8):c.1562C>G (p.Pro521Arg)	SLC7A8 (P416R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165616	NM_012244.4(SLC7A8):c.1552A>G (p.Met518Val)	SLC7A8 (M294V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457382	NM_012244.4(SLC7A8):c.1499G>A (p.Arg500Gln)	SLC7A8 (R276Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3165615	NM_012244.4(SLC7A8):c.1472G>T (p.Cys491Phe)	SLC7A8 (C386F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603609	NM_012244.4(SLC7A8):c.1435T>A (p.Phe479Ile)	SLC7A8 (F255I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611465	NM_012244.4(SLC7A8):c.1413C>G (p.His471Gln)	SLC7A8 (H247Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215193	NM_012244.4(SLC7A8):c.1397G>T (p.Gly466Val)	SLC7A8 (G242V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320232	NM_012244.4(SLC7A8):c.1250C>A (p.Pro417His)	SLC7A8 (P417H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459976	NM_012244.4(SLC7A8):c.1207G>C (p.Val403Leu)	SLC7A8 (V403L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521270	NM_012244.4(SLC7A8):c.1159C>A (p.Leu387Ile)	SLC7A8 (L163I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165613	NM_012244.4(SLC7A8):c.1114T>G (p.Cys372Gly)	SLC7A8 (C169G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165612	NM_012244.4(SLC7A8):c.1075G>A (p.Val359Met)	SLC7A8 (V359M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165622	NM_012244.4(SLC7A8):c.968C>T (p.Ala323Val)	SLC7A8 (A99V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735818	NM_012244.4(SLC7A8):c.900C>T (p.Asn300=)	SLC7A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2392904	NM_012244.4(SLC7A8):c.856G>A (p.Ala286Thr)	SLC7A8 (A62T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599499	NM_012244.4(SLC7A8):c.851A>G (p.Asn284Ser)	SLC7A8 (N179S +3 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 2543439	NM_012244.4(SLC7A8):c.755A>G (p.Asn252Ser)	SLC7A8 (N147S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322914	NM_012244.4(SLC7A8):c.739G>A (p.Gly247Ser)	SLC7A8 (G142S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 599500	NM_012244.4(SLC7A8):c.730G>A (p.Ala244Thr)	SLC7A8 (A139T +2 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GLikely pathogenic
Select item 2220625	NM_012244.4(SLC7A8):c.703G>C (p.Ala235Pro)	SLC7A8 (A32P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359644	NM_012244.4(SLC7A8):c.694G>A (p.Gly232Ser)	SLC7A8 (G232S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3320228	NM_012244.4(SLC7A8):c.685C>G (p.Pro229Ala)	SLC7A8 (P124A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3320227	NM_012244.4(SLC7A8):c.623A>G (p.Gln208Arg)	SLC7A8 (Q103R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3165621	NM_012244.4(SLC7A8):c.541C>T (p.Arg181Trp)	SLC7A8 (A8V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2336551	NM_012244.4(SLC7A8):c.523G>A (p.Val175Ile)	SLC7A8 (V175I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3320230	NM_012244.4(SLC7A8):c.484C>T (p.Arg162Trp)	SLC7A8 (R162W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408779	NM_012244.4(SLC7A8):c.446C>T (p.Pro149Leu)	SLC7A8 (P149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165620	NM_012244.4(SLC7A8):c.436G>A (p.Val146Met)	SLC7A8 (V146M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456535	NM_012244.4(SLC7A8):c.419T>C (p.Leu140Pro)	SLC7A8 (L140P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165619	NM_012244.4(SLC7A8):c.305A>G (p.Lys102Arg)	SLC7A8 (K102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165618	NM_012244.4(SLC7A8):c.262G>A (p.Val88Met)	SLC7A8 (V88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320231	NM_012244.4(SLC7A8):c.182C>T (p.Ser61Leu)	SLC7A8 (S61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165617	NM_012244.4(SLC7A8):c.178G>A (p.Val60Ile)	SLC7A8 (V60I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165614	NM_012244.4(SLC7A8):c.131G>C (p.Ser44Thr)	SLC7A8 (S44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165611	NM_012244.4(SLC7A8):c.101T>C (p.Val34Ala)	SLC7A8 (V34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771192	NM_012244.4(SLC7A8):c.86C>T (p.Ser29Phe)	SLC7A8 (S29F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3320229	NM_012244.4(SLC7A8):c.77A>C (p.Glu26Ala)	SLC7A8 (E26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717110	NM_012244.4(SLC7A8):c.23G>C (p.Arg8Pro)	SLC7A8 (R8P)	Single nucleotide variant (missense variant)	not provided	GBenign

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Items: 38