285195[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 57835	GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1	ATP1B3, ATR +107 more	Copy number loss	See cases	GPathogenic
Select item 146560	GRCh38/hg38 3q23-24(chr3:142780798-146233927)x1	CHST2, DIPK2A +49 more	Copy number loss	See cases	GUncertain significance
Select item 3320299	NM_173653.4(SLC9A9):c.1892A>G (p.Tyr631Cys)	SLC9A9 (Y631C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351859	NM_173653.4(SLC9A9):c.1879G>A (p.Gly627Ser)	SLC9A9 (G627S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457802	NM_173653.4(SLC9A9):c.1865A>G (p.Tyr622Cys)	SLC9A9 (Y622C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358201	NM_173653.4(SLC9A9):c.1852A>G (p.Lys618Glu)	SLC9A9 (K618E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320303	NM_173653.4(SLC9A9):c.1837C>T (p.Pro613Ser)	SLC9A9 (P613S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788398	NM_173653.4(SLC9A9):c.1824C>T (p.Asp608=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1013232	NM_173653.4(SLC9A9):c.1808C>A (p.Ala603Glu)	SLC9A9 (A603E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3165736	NM_173653.4(SLC9A9):c.1801C>T (p.Pro601Ser)	SLC9A9 (P601S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405963	NM_173653.4(SLC9A9):c.1766T>C (p.Ile589Thr)	SLC9A9 (I589T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 426935	NM_173653.4(SLC9A9):c.1742T>C (p.Ile581Thr)	SLC9A9 (I581T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2295832	NM_173653.4(SLC9A9):c.1730A>G (p.Asp577Gly)	SLC9A9 (D577G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672962	NM_173653.4(SLC9A9):c.1719A>G (p.Leu573=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2341596	NM_173653.4(SLC9A9):c.1706A>T (p.Tyr569Phe)	SLC9A9 (Y569F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039722	NM_173653.4(SLC9A9):c.1674G>A (p.Pro558=)	SLC9A9	Single nucleotide variant (synonymous variant)	SLC9A9-related disorder	GLikely benign
Select item 3320296	NM_173653.4(SLC9A9):c.1667G>A (p.Cys556Tyr)	SLC9A9 (C556Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165735	NM_173653.4(SLC9A9):c.1666T>C (p.Cys556Arg)	SLC9A9 (C556R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541334	NM_173653.4(SLC9A9):c.1657C>T (p.Pro553Ser)	SLC9A9 (P553S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789170	NM_173653.4(SLC9A9):c.1641G>A (p.Pro547=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3165734	NM_173653.4(SLC9A9):c.1634G>A (p.Gly545Asp)	SLC9A9 (G545D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714208	NM_173653.4(SLC9A9):c.1618A>G (p.Ile540Val)	SLC9A9 (I540V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3068831	NM_173653.4(SLC9A9):c.1604+10G>C	SLC9A9	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3320298	NM_173653.4(SLC9A9):c.1601A>C (p.His534Pro)	SLC9A9 (H534P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313710	NM_173653.4(SLC9A9):c.1593C>G (p.Ser531Arg)	SLC9A9 (S531R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043665	NM_173653.4(SLC9A9):c.1575C>T (p.Leu525=)	SLC9A9	Single nucleotide variant (synonymous variant)	SLC9A9-related disorder	GLikely benign
Select item 3320300	NM_173653.4(SLC9A9):c.1574T>C (p.Leu525Pro)	SLC9A9 (L525P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767938	NM_173653.4(SLC9A9):c.1572G>C (p.Arg524=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3320301	NM_173653.4(SLC9A9):c.1556A>G (p.Lys519Arg)	SLC9A9 (K519R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481816	NM_173653.4(SLC9A9):c.1528G>A (p.Ala510Thr)	SLC9A9 (A510T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320302	NM_173653.4(SLC9A9):c.1518A>C (p.Gln506His)	SLC9A9 (Q506H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252794	NM_173653.4(SLC9A9):c.1486G>A (p.Asp496Asn)	SLC9A9 (D496N)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 16 +2 more	GLikely benign
Select item 3165733	NM_173653.4(SLC9A9):c.1482C>A (p.Asp494Glu)	SLC9A9 (D494E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165732	NM_173653.4(SLC9A9):c.1478T>C (p.Val493Ala)	SLC9A9 (V493A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746826	NM_173653.4(SLC9A9):c.1476C>T (p.Gly492=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690039	NM_173653.4(SLC9A9):c.1450T>C (p.Leu484=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 709195	NM_173653.4(SLC9A9):c.1428T>C (p.Phe476=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2636657	NM_173653.4(SLC9A9):c.1426T>C (p.Phe476Leu)	SLC9A9 (F476L)	Single nucleotide variant (missense variant)	SLC9A9-related disorder	GUncertain significance
Select item 712511	NM_173653.4(SLC9A9):c.1425A>C (p.Val475=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2207265	NM_173653.4(SLC9A9):c.1397T>C (p.Leu466Pro)	SLC9A9 (L466P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654207	NM_173653.4(SLC9A9):c.1390A>G (p.Thr464Ala)	SLC9A9 (T464A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579121	NM_173653.4(SLC9A9):c.1380G>T (p.Met460Ile)	SLC9A9 (M460I)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 16	GUncertain significance
Select item 3165731	NM_173653.4(SLC9A9):c.1378A>G (p.Met460Val)	SLC9A9 (M460V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458759	NM_173653.4(SLC9A9):c.1351C>T (p.Arg451Trp)	SLC9A9 (R451W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220110	NM_173653.4(SLC9A9):c.1345G>A (p.Ala449Thr)	SLC9A9 (A449T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631741	NM_173653.4(SLC9A9):c.1336T>C (p.Phe446Leu)	SLC9A9 (F446L)	Single nucleotide variant (missense variant)	SLC9A9-related disorder	GUncertain significance
Select item 2273016	NM_173653.4(SLC9A9):c.1328C>T (p.Ala443Val)	SLC9A9 (A443V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505191	NM_173653.4(SLC9A9):c.1321C>T (p.Arg441Ter)	SLC9A9 (R441*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1691277	NM_173653.4(SLC9A9):c.1268G>A (p.Arg423Gln)	SLC9A9 (R423Q)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 16	GUncertain significance
Select item 2363	NM_173653.4(SLC9A9):c.1267C>T (p.Arg423Ter)	SLC9A9 (R423*)	Single nucleotide variant (nonsense)	Autism, susceptibility to, 16	Grisk factor
Select item 2281804	NM_173653.4(SLC9A9):c.1214T>G (p.Phe405Cys)	SLC9A9 (F405C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996870	NM_173653.4(SLC9A9):c.1203+1G>A	SLC9A9	Single nucleotide variant (splice donor variant)	Autism, susceptibility to, 16	GUncertain significance
Select item 757091	NM_173653.4(SLC9A9):c.1158G>A (p.Thr386=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 373317	NM_173653.4(SLC9A9):c.1082C>G (p.Thr361Ser)	SLC9A9 (T361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358000	NM_173653.4(SLC9A9):c.1046C>T (p.Thr349Ile)	SLC9A9 (T349I)	Single nucleotide variant (missense variant)	SLC9A9-related disorder	GUncertain significance
Select item 2456946	NM_173653.4(SLC9A9):c.1003A>T (p.Ile335Leu)	SLC9A9 (I335L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637613	NM_173653.4(SLC9A9):c.1000+4A>T	SLC9A9	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3068832	NM_173653.4(SLC9A9):c.998C>T (p.Thr333Ile)	SLC9A9 (T333I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165738	NM_173653.4(SLC9A9):c.926C>T (p.Pro309Leu)	SLC9A9 (P309L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 379454	NM_173653.4(SLC9A9):c.918T>C (p.Cys306=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3349757	NM_173653.4(SLC9A9):c.894+4T>C	SLC9A9	Single nucleotide variant (intron variant)	SLC9A9-related disorder	GUncertain significance
Select item 2270906	NM_173653.4(SLC9A9):c.886A>G (p.Thr296Ala)	SLC9A9 (T296A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733603	NM_173653.4(SLC9A9):c.861A>C (p.Ala287=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3165737	NM_173653.4(SLC9A9):c.850G>A (p.Gly284Ser)	SLC9A9 (G284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349585	NM_173653.4(SLC9A9):c.847G>A (p.Ala283Thr)	SLC9A9 (A283T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1176468	NM_173653.4(SLC9A9):c.846C>T (p.Phe282=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613564	NM_173653.4(SLC9A9):c.838G>A (p.Gly280Arg)	SLC9A9 (G280R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770148	NM_173653.4(SLC9A9):c.831T>C (p.Asn277=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739941	NM_173653.4(SLC9A9):c.828G>A (p.Gly276=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2216211	NM_173653.4(SLC9A9):c.805G>A (p.Ala269Thr)	SLC9A9 (A269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320297	NM_173653.4(SLC9A9):c.793G>A (p.Ala265Thr)	SLC9A9 (A265T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 757092	NM_173653.4(SLC9A9):c.759T>C (p.Ser253=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2292289	NM_173653.4(SLC9A9):c.751A>C (p.Thr251Pro)	SLC9A9 (T251P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578951	NM_173653.4(SLC9A9):c.723G>A (p.Val241=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720346	NM_173653.4(SLC9A9):c.707T>C (p.Leu236Ser)	SLC9A9 (L236S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3053877	NM_173653.4(SLC9A9):c.702A>G (p.Thr234=)	SLC9A9	Single nucleotide variant (synonymous variant)	SLC9A9-related disorder	GLikely benign
Select item 729507	NM_173653.4(SLC9A9):c.684C>T (p.Val228=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 998156	NM_173653.4(SLC9A9):c.587del (p.Asn196fs)	SLC9A9 (N196fs)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 3025096	NM_173653.4(SLC9A9):c.576C>A (p.Gly192=)	SLC9A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690038	NM_173653.4(SLC9A9):c.554T>G (p.Val185Gly)	SLC9A9 (V185G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049440	NM_173653.4(SLC9A9):c.545A>T (p.Tyr182Phe)	SLC9A9 (Y182F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285172	NM_173653.4(SLC9A9):c.540del (p.Met181fs)	SLC9A9 (M181fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2637708	NM_173653.4(SLC9A9):c.533+19T>G	SLC9A9	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 718610	NM_173653.4(SLC9A9):c.533+10A>G	SLC9A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2475911	NM_173653.4(SLC9A9):c.529A>G (p.Ile177Val)	SLC9A9 (I177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395154	NM_173653.4(SLC9A9):c.491C>T (p.Thr164Met)	SLC9A9 (T164M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335541	NM_173653.4(SLC9A9):c.456+6T>C	SLC9A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3251669	NM_173653.4(SLC9A9):c.456G>C (p.Lys152Asn)	SLC9A9 (K152N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623168	NM_173653.4(SLC9A9):c.436G>A (p.Ala146Thr)	SLC9A9 (A146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715970	NM_173653.4(SLC9A9):c.378+6G>T	SLC9A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787258	NM_173653.4(SLC9A9):c.283G>A (p.Val95Ile)	SLC9A9 (V95I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774427	NM_173653.4(SLC9A9):c.176-3del	SLC9A9	Deletion (intron variant)	not provided	GBenign

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