SLC5A4-AS1[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 3165247	NM_014227.3(SLC5A4):c.1967G>A (p.Gly656Asp)	SLC5A4, SLC5A4-AS1 (G656D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520232	NM_014227.3(SLC5A4):c.1903T>C (p.Ser635Pro)	SLC5A4, SLC5A4-AS1 (S635P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320053	NM_014227.3(SLC5A4):c.1882A>C (p.Thr628Pro)	SLC5A4, SLC5A4-AS1 (T628P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491802	NM_014227.3(SLC5A4):c.1851G>C (p.Lys617Asn)	SLC5A4, SLC5A4-AS1 (K617N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540612	NM_014227.3(SLC5A4):c.1803A>C (p.Lys601Asn)	SLC5A4, SLC5A4-AS1 (K601N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320054	NM_014227.3(SLC5A4):c.1787G>A (p.Arg596His)	SLC5A4, SLC5A4-AS1 (R596H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330602	NM_014227.3(SLC5A4):c.1775C>T (p.Pro592Leu)	SLC5A4, SLC5A4-AS1 (P592L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320052	NM_014227.3(SLC5A4):c.1737T>G (p.Ser579Arg)	SLC5A4, SLC5A4-AS1 (S579R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342595	NM_014227.3(SLC5A4):c.1723G>T (p.Ala575Ser)	SLC5A4, SLC5A4-AS1 (A575S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165246	NM_014227.3(SLC5A4):c.1700C>T (p.Thr567Ile)	SLC5A4, SLC5A4-AS1 (T567I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320850	NM_014227.3(SLC5A4):c.1631T>C (p.Ile544Thr)	SLC5A4, SLC5A4-AS1 (I544T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590004	NM_014227.3(SLC5A4):c.1573C>T (p.His525Tyr)	SLC5A4, SLC5A4-AS1 (H525Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310512	NM_014227.3(SLC5A4):c.1532G>T (p.Cys511Phe)	SLC5A4, SLC5A4-AS1 (C511F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409960	NM_014227.3(SLC5A4):c.1469T>C (p.Met490Thr)	SLC5A4, SLC5A4-AS1 (M490T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544575	NM_014227.3(SLC5A4):c.1381A>G (p.Ser461Gly)	SLC5A4, SLC5A4-AS1 (S461G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609890	NM_014227.3(SLC5A4):c.1367C>G (p.Thr456Arg)	SLC5A4, SLC5A4-AS1 (T456R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407531	NM_014227.3(SLC5A4):c.1361A>G (p.His454Arg)	SLC5A4, SLC5A4-AS1 (H454R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620570	NM_014227.3(SLC5A4):c.1271T>C (p.Ile424Thr)	SLC5A4, SLC5A4-AS1 (I424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345950	NM_014227.3(SLC5A4):c.1253C>T (p.Ser418Leu)	SLC5A4, SLC5A4-AS1 (S418L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406437	NM_014227.3(SLC5A4):c.1245G>T (p.Lys415Asn)	SLC5A4, SLC5A4-AS1 (K415N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327950	NM_014227.3(SLC5A4):c.1240C>G (p.Arg414Gly)	SLC5A4, SLC5A4-AS1 (R414G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308470	NM_014227.3(SLC5A4):c.1238T>C (p.Met413Thr)	SLC5A4, SLC5A4-AS1 (M413T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653085	NM_014227.3(SLC5A4):c.1185C>T (p.Thr395=)	SLC5A4, SLC5A4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3165245	NM_014227.3(SLC5A4):c.1088A>G (p.Asn363Ser)	SLC5A4, SLC5A4-AS1 (N363S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623039	NM_014227.3(SLC5A4):c.1072G>C (p.Asp358His)	SLC5A4, SLC5A4-AS1 (D358H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395271	NM_014227.3(SLC5A4):c.1054G>A (p.Val352Met)	SLC5A4, SLC5A4-AS1 (V352M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165244	NM_014227.3(SLC5A4):c.1039G>A (p.Val347Ile)	SLC5A4, SLC5A4-AS1 (V347I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542723	NM_014227.3(SLC5A4):c.1024A>T (p.Met342Leu)	SLC5A4, SLC5A4-AS1 (M342L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315269	NM_014227.3(SLC5A4):c.950G>A (p.Cys317Tyr)	SLC5A4, SLC5A4-AS1 (C317Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551240	NM_014227.3(SLC5A4):c.916G>A (p.Asp306Asn)	SLC5A4, SLC5A4-AS1 (D306N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559275	NM_014227.3(SLC5A4):c.857C>T (p.Thr286Ile)	SLC5A4, SLC5A4-AS1 (T286I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320050	NM_014227.3(SLC5A4):c.779C>T (p.Ala260Val)	SLC5A4, SLC5A4-AS1 (A260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026126	NM_014227.3(SLC5A4):c.708C>T (p.Tyr236=)	SLC5A4, SLC5A4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2466509	NM_014227.3(SLC5A4):c.665C>T (p.Ala222Val)	SLC5A4, SLC5A4-AS1 (A222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165251	NM_014227.3(SLC5A4):c.631A>G (p.Met211Val)	SLC5A4, SLC5A4-AS1 (M211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379248	NM_014227.3(SLC5A4):c.629T>C (p.Ile210Thr)	SLC5A4, SLC5A4-AS1 (I210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165250	NM_014227.3(SLC5A4):c.559A>G (p.Met187Val)	SLC5A4, SLC5A4-AS1 (M187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454412	NM_014227.3(SLC5A4):c.541A>G (p.Ile181Val)	SLC5A4, SLC5A4-AS1 (I181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378346	NM_014227.3(SLC5A4):c.536T>C (p.Leu179Pro)	SLC5A4, SLC5A4-AS1 (L179P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258586	NM_014227.3(SLC5A4):c.530T>C (p.Leu177Pro)	SLC5A4-AS1, SLC5A4 (L177P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612672	NM_014227.3(SLC5A4):c.497C>T (p.Ala166Val)	SLC5A4, SLC5A4-AS1 (A166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653086	NM_014227.3(SLC5A4):c.427del (p.Val143fs)	SLC5A4, SLC5A4-AS1 (V143fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2611902	NM_014227.3(SLC5A4):c.410G>C (p.Gly137Ala)	SLC5A4, SLC5A4-AS1 (G137A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454382	NM_014227.3(SLC5A4):c.403C>T (p.Arg135Trp)	SLC5A4, SLC5A4-AS1 (R135W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219205	NM_014227.3(SLC5A4):c.386C>T (p.Pro129Leu)	SLC5A4, SLC5A4-AS1 (P129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165249	NM_014227.3(SLC5A4):c.313T>A (p.Ser105Thr)	SLC5A4, SLC5A4-AS1 (S105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386484	NM_014227.3(SLC5A4):c.310A>G (p.Thr104Ala)	SLC5A4, SLC5A4-AS1 (T104A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165248	NM_014227.3(SLC5A4):c.284G>A (p.Gly95Glu)	SLC5A4, SLC5A4-AS1 (G95E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490420	NM_014227.3(SLC5A4):c.187C>T (p.Arg63Cys)	SLC5A4, SLC5A4-AS1 (R63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394419	NM_014227.3(SLC5A4):c.155G>A (p.Arg52Gln)	SLC5A4, SLC5A4-AS1 (R52Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3165252	NM_014227.3(SLC5A4):c.79G>A (p.Ala27Thr)	SLC5A4, SLC5A4-AS1 (A27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320055	NM_014227.3(SLC5A4):c.29T>G (p.Ile10Arg)	SLC5A4, SLC5A4-AS1 (I10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 57