SLC6A13[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 152732	GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1	ADIPOR2, B4GALNT3 +142 more	Copy number loss	See cases	GPathogenic
Select item 152450	GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	ADIPOR2, B4GALNT3 +147 more	Copy number loss	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 149131	GRCh38/hg38 12p13.33(chr12:54427-936828)x1	B4GALNT3, CCDC77 +44 more	Copy number loss	See cases	GUncertain significance
Select item 147092	GRCh38/hg38 12p13.33(chr12:54452-2558097)x1	ADIPOR2, B4GALNT3 +101 more	Copy number loss	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59434	GRCh38/hg38 12p13.33(chr12:77187-356623)x1	IQSEC3, IQSEC3-AS1 +10 more	Copy number loss	See cases	GUncertain significance
Select item 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	See cases	GPathogenic
Select item 148625	GRCh38/hg38 12p13.33(chr12:80412-2850599)x1	ADIPOR2, B4GALNT3 +114 more	Copy number loss	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 58952	GRCh38/hg38 12p13.33(chr12:99592-1786491)x1	LOC130007161, LOC130007162 +80 more	Copy number loss	See cases	GPathogenic
Select item 154528	GRCh38/hg38 12p13.33(chr12:121255-3003320)x1	ADIPOR2, B4GALNT3 +123 more	Copy number loss	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 144380	GRCh38/hg38 12p13.33(chr12:121255-260026)x3	IQSEC3, IQSEC3-AS1 +7 more	Copy number gain	See cases	GBenign
Select item 57044	GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1	ADIPOR2, B4GALNT3 +146 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 59798	GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3	ADIPOR2, B4GALNT3 +126 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 3320114	NM_016615.5(SLC6A13):c.1748C>G (p.Ser583Trp)	SLC6A13 (S491W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594229	NM_016615.5(SLC6A13):c.1744C>A (p.Pro582Thr)	SLC6A13 (P490T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459199	NM_016615.5(SLC6A13):c.1729C>T (p.Arg577Trp)	SLC6A13 (R577W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404238	NM_016615.5(SLC6A13):c.1693C>T (p.Arg565Cys)	SLC6A13 (R473C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731798	NM_016615.5(SLC6A13):c.1686+7C>T	SLC6A13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2544508	NM_016615.5(SLC6A13):c.1671G>T (p.Lys557Asn)	SLC6A13 (K465N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165376	NM_016615.5(SLC6A13):c.1615C>G (p.Leu539Val)	SLC6A13 (L447V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460150	NM_016615.5(SLC6A13):c.1580C>T (p.Pro527Leu)	SLC6A13 (P435L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327875	NM_016615.5(SLC6A13):c.1481A>C (p.Tyr494Ser)	SLC6A13 (Y494S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 548494	NM_016615.5(SLC6A13):c.1424G>A (p.Arg475His)	SLC6A13 (R475H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2359658	NM_016615.5(SLC6A13):c.1409T>C (p.Val470Ala)	SLC6A13 (V378A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592273	NM_016615.5(SLC6A13):c.1387G>A (p.Glu463Lys)	SLC6A13 (E371K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165375	NM_016615.5(SLC6A13):c.1386C>A (p.Phe462Leu)	SLC6A13 (F370L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720606	NM_016615.5(SLC6A13):c.1374C>T (p.Phe458=)	SLC6A13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3165374	NM_016615.5(SLC6A13):c.1315G>A (p.Gly439Arg)	SLC6A13 (G347R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543339	NM_016615.5(SLC6A13):c.1285C>A (p.Leu429Ile)	SLC6A13 (L429I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165373	NM_016615.5(SLC6A13):c.1268T>C (p.Val423Ala)	SLC6A13 (V331A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787549	NM_016615.5(SLC6A13):c.1244G>A (p.Arg415Gln)	SLC6A13 (R323Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781057	NM_016615.5(SLC6A13):c.1224C>T (p.His408=)	SLC6A13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787550	NM_016615.5(SLC6A13):c.1221T>C (p.Pro407=)	SLC6A13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3165372	NM_016615.5(SLC6A13):c.1180T>C (p.Cys394Arg)	SLC6A13 (C302R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509857	NM_016615.5(SLC6A13):c.1157T>C (p.Leu386Pro)	SLC6A13 (L294P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642561	NM_016615.5(SLC6A13):c.1149C>T (p.Val383=)	SLC6A13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2548152	NM_016615.5(SLC6A13):c.1142T>G (p.Phe381Cys)	SLC6A13 (F381C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347442	NM_016615.5(SLC6A13):c.1090C>T (p.Arg364Trp)	SLC6A13 (R364W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731113	NM_016615.5(SLC6A13):c.1038C>G (p.Pro346=)	SLC6A13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3165380	NM_016615.5(SLC6A13):c.967G>A (p.Gly323Ser)	SLC6A13 (G231S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165379	NM_016615.5(SLC6A13):c.940T>C (p.Cys314Arg)	SLC6A13 (C314R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397253	NM_016615.5(SLC6A13):c.929G>A (p.Cys310Tyr)	SLC6A13 (C218Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690033	NM_016615.5(SLC6A13):c.871G>A (p.Ala291Thr)	SLC6A13 (A199T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2300738	NM_016615.5(SLC6A13):c.862T>C (p.Phe288Leu)	SLC6A13 (F196L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496050	NM_016615.5(SLC6A13):c.859T>C (p.Phe287Leu)	SLC6A13 (F195L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 547971	NM_016615.5(SLC6A13):c.829C>G (p.Gln277Glu)	SLC6A13 (Q277E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3320115	NM_016615.5(SLC6A13):c.814C>T (p.Arg272Cys)	SLC6A13 (R180C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165378	NM_016615.5(SLC6A13):c.812C>T (p.Thr271Met)	SLC6A13 (T179M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226615	NM_016615.5(SLC6A13):c.746T>C (p.Leu249Ser)	SLC6A13 (L157S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366765	NM_016615.5(SLC6A13):c.725A>G (p.Tyr242Cys)	SLC6A13 (Y242C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211196	NM_016615.5(SLC6A13):c.614G>A (p.Arg205His)	SLC6A13 (R205H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065553	NM_016615.5(SLC6A13):c.563+1G>A	SLC6A13	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2510440	NM_016615.5(SLC6A13):c.547G>C (p.Val183Leu)	SLC6A13 (V183L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404896	NM_016615.5(SLC6A13):c.533A>G (p.Asn178Ser)	SLC6A13 (N178S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165377	NM_016615.5(SLC6A13):c.392T>C (p.Ile131Thr)	SLC6A13 (I131T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298144	NM_016615.5(SLC6A13):c.364G>A (p.Val122Ile)	SLC6A13 (V122I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311203	NM_016615.5(SLC6A13):c.341T>C (p.Ile114Thr)	SLC6A13 (I114T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471617	NM_016615.5(SLC6A13):c.340A>G (p.Ile114Val)	SLC6A13 (I114V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619268	NM_016615.5(SLC6A13):c.253G>A (p.Val85Ile)	SLC6A13 (V85I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212750	NM_016615.5(SLC6A13):c.226G>A (p.Val76Ile)	SLC6A13 (V76I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3320117	NM_016615.5(SLC6A13):c.203G>A (p.Gly68Asp)	SLC6A13 (G68D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320116	NM_016615.5(SLC6A13):c.100C>A (p.His34Asn)	SLC6A13 (H34N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063267	GRCh37/hg19 12p13.33(chr12:248855-464636)x3	IQSEC3, KDM5A +2 more	Copy number gain	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3024577	GRCh37/hg19 12p13.33(chr12:247433-461490)x1	IQSEC3, KDM5A +2 more	Copy number loss	not provided	GUncertain significance
Select item 2685430	GRCh37/hg19 12p13.33(chr12:332362-534957)x1	CCDC77, KDM5A +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685429	GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	ADIPOR2, AKAP3 +40 more	Copy number loss	not provided	GPathogenic
Select item 2685428	GRCh37/hg19 12p13.33(chr12:173787-2431561)x1	ADIPOR2, B4GALNT3 +16 more	Copy number loss	not provided	GUncertain significance
Select item 2684663	GRCh37/hg19 12p13.33(chr12:332362-1590974)x3	B4GALNT3, CCDC77 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684662	GRCh37/hg19 12p13.33(chr12:173787-385411)x3	IQSEC3, SLC6A12 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2582911	GRCh37/hg19 12p13.33(chr12:336731-674567)x3	B4GALNT3, CCDC77 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1808559	GRCh37/hg19 12p13.33(chr12:261086-586662)x3	B4GALNT3, CCDC77 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808434	GRCh37/hg19 12p13.33(chr12:310522-632400)x3	B4GALNT3, CCDC77 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527674	GRCh37/hg19 12p13.33(chr12:310521-864216)	B4GALNT3, CCDC77 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 979958	GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1	ADIPOR2, B4GALNT3 +33 more	Copy number loss	not provided	GPathogenic
Select item 979955	GRCh37/hg19 12p13.33(chr12:305601-543834)x3	SLC6A13, CCDC77 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815494	GRCh37/hg19 12p13.33(chr12:332661-783484)x3	NINJ2, SLC6A13 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 815492	GRCh37/hg19 12p13.33(chr12:239786-332382)x1	SLC6A13, IQSEC3 +1 more	Copy number loss	not provided	GLikely benign
Select item 815491	GRCh37/hg19 12p13.33(chr12:173786-825782)x1	CCDC77, SLC6A12 +6 more	Copy number loss	not provided	GUncertain significance
Select item 688681	GRCh37/hg19 12p13.33(chr12:305296-464652)x3	KDM5A, SLC6A12 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687792	GRCh37/hg19 12p13.33(chr12:274676-690148)x3	B4GALNT3, CCDC77 +5 more	Copy number gain	not provided	GUncertain significance

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