ClinVar for MedGen (Select 203368) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24292361.	NC_000006.11:g.(?_74303101)_(74310165_74320122)del GRCh37: Chr6:74303101-74320122	SLC17A5		Salla disease	Likely pathogenic (Jan 6, 2023)	criteria provided, single submitter
Select item 24258142.	NC_000006.11:g.(?_74189435)_(74363609_?)dup GRCh37: Chr6:74189435-74363609	EEF1A1, SLC17A5, MTO1		Salla disease	Uncertain significance (Jul 26, 2021)	criteria provided, single submitter
Select item 24258133.	NC_000006.11:g.(?_74310064)_(74310174_?)del GRCh37: Chr6:74310064-74310174	SLC17A5		Salla disease	Pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 24258124.	NC_000006.11:g.(?_74304800)_(74310184_?)dup GRCh37: Chr6:74304800-74310184	SLC17A5		Salla disease	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 24258115.	NC_000006.11:g.(?_74320103)_(74320290_?)del GRCh37: Chr6:74320103-74320290	SLC17A5		Salla disease	Pathogenic (Jan 15, 2022)	criteria provided, single submitter
Select item 24258106.	NC_000006.11:g.(?_74363496)_(74363609_?)del GRCh37: Chr6:74363496-74363609	SLC17A5		Salla disease	Pathogenic (Apr 10, 2022)	criteria provided, single submitter
Select item 24220657.	NM_012434.5(SLC17A5):c.1263T>C (p.Tyr421=) GRCh37: Chr6:74310161 GRCh38: Chr6:73600438	SLC17A5		Salla disease	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 24203418.	NM_012434.5(SLC17A5):c.401G>T (p.Gly134Val) GRCh37: Chr6:74351538 GRCh38: Chr6:73641815	SLC17A5	G134V, G141V, G57V	Salla disease	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 24150169.	NM_012434.5(SLC17A5):c.760A>G (p.Lys254Glu) GRCh37: Chr6:74345164 GRCh38: Chr6:73635441	SLC17A5	K148E, K177E, K225E, K253E, K254E, K261E	Salla disease	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 220191310.	NM_012434.5(SLC17A5):c.413T>C (p.Leu138Pro) GRCh37: Chr6:74351526 GRCh38: Chr6:73641803	SLC17A5	L138P, L145P, L61P	Salla disease	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 219977211.	NM_012434.5(SLC17A5):c.290C>T (p.Thr97Met) GRCh37: Chr6:74354131 GRCh38: Chr6:73644408	SLC17A5	T104M, T97M	Salla disease	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 219844312.	NM_012434.5(SLC17A5):c.494T>C (p.Ile165Thr) GRCh37: Chr6:74351445 GRCh38: Chr6:73641722	SLC17A5	I165T, I172T, I88T	Salla disease	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 218423513.	NM_012434.5(SLC17A5):c.1153A>G (p.Ile385Val) GRCh37: Chr6:74320229 GRCh38: Chr6:73610506	SLC17A5	I308V, I279V, I332V, I384V, I385V, I392V, I356V	Salla disease	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 217986814.	NM_012434.5(SLC17A5):c.795C>T (p.Tyr265=) GRCh37: Chr6:74345129 GRCh38: Chr6:73635406	SLC17A5		Salla disease	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 217876915.	NM_012434.5(SLC17A5):c.456C>T (p.Phe152=) GRCh37: Chr6:74351483 GRCh38: Chr6:73641760	SLC17A5		Salla disease	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 217170916.	NM_012434.5(SLC17A5):c.421T>C (p.Phe141Leu) GRCh37: Chr6:74351518 GRCh38: Chr6:73641795	SLC17A5	F141L, F148L, F64L	Salla disease	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 217139317.	NM_012434.5(SLC17A5):c.94+13del GRCh37: Chr6:74363503 GRCh38: Chr6:73653780	SLC17A5		Salla disease	Benign (Sep 10, 2022)	criteria provided, single submitter
Select item 216889218.	NM_012434.5(SLC17A5):c.1141G>C (p.Ala381Pro) GRCh37: Chr6:74320241 GRCh38: Chr6:73610518	SLC17A5	A352P, A380P, A388P, A381P, A275P, A304P, A328P	Salla disease	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 216695419.	NM_012434.5(SLC17A5):c.197A>G (p.Asp66Gly) GRCh37: Chr6:74354224 GRCh38: Chr6:73644501	SLC17A5	D66G, D73G	Salla disease	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 216351620.	NM_012434.5(SLC17A5):c.1323C>T (p.Pro441=) GRCh37: Chr6:74310101 GRCh38: Chr6:73600378	SLC17A5		Salla disease	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 216183321.	NM_012434.5(SLC17A5):c.880A>C (p.Ile294Leu) GRCh37: Chr6:74331625 GRCh38: Chr6:73621902	SLC17A5	I294L, I188L, I217L, I265L, I293L, I301L	Salla disease	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 216038422.	NM_012434.5(SLC17A5):c.1259+3G>A GRCh37: Chr6:74320120 GRCh38: Chr6:73610397	SLC17A5		Salla disease	Uncertain significance (Jan 19, 2021)	criteria provided, single submitter
Select item 215832523.	NM_012434.5(SLC17A5):c.1462_1464del (p.Asn488del) GRCh37: Chr6:74304824-74304826 GRCh38: Chr6:73595101-73595103	SLC17A5	M458del, N435del, N487del, M521del, N382del, N411del, N488del, N495del, N459del	Salla disease	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 215787124.	NM_012434.5(SLC17A5):c.505G>C (p.Ala169Pro) GRCh37: Chr6:74351434 GRCh38: Chr6:73641711	SLC17A5	A176P, A92P, A169P	Salla disease	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 215666025.	NM_012434.5(SLC17A5):c.1111+9A>T GRCh37: Chr6:74325029 GRCh38: Chr6:73615306	SLC17A5		Salla disease	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 215597726.	NM_012434.5(SLC17A5):c.1111+15C>G GRCh37: Chr6:74325023 GRCh38: Chr6:73615300	SLC17A5		Salla disease	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 215329127.	NM_012434.5(SLC17A5):c.586A>G (p.Ser196Gly) GRCh37: Chr6:74348162 GRCh38: Chr6:73638439	SLC17A5	S203G, S119G, S196G	Inborn genetic diseases, Salla disease	Uncertain significance (Feb 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214934728.	NM_012434.5(SLC17A5):c.55C>T (p.Arg19Cys) GRCh37: Chr6:74363555 GRCh38: Chr6:73653832	SLC17A5	R19C	Salla disease	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 214816229.	NM_012434.5(SLC17A5):c.233G>C (p.Arg78Thr) GRCh37: Chr6:74354188 GRCh38: Chr6:73644465	SLC17A5	R78T, R85T	Salla disease	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 214785930.	NM_012434.5(SLC17A5):c.1419C>G (p.Phe473Leu) GRCh37: Chr6:74304869 GRCh38: Chr6:73595146	SLC17A5	S506C, F420L, F472L, F444L, F473L, S443C, F367L, F396L, F480L	Salla disease	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 214756031.	NM_012434.5(SLC17A5):c.229A>G (p.Asn77Asp) GRCh37: Chr6:74354192 GRCh38: Chr6:73644469	SLC17A5	N77D, N84D	Salla disease	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 214613832.	NM_012434.5(SLC17A5):c.95-19del GRCh37: Chr6:74354345 GRCh38: Chr6:73644622	SLC17A5		Salla disease	Benign (Jun 17, 2022)	criteria provided, single submitter
Select item 214492133.	NM_012434.5(SLC17A5):c.1326C>T (p.Val442=) GRCh37: Chr6:74310098 GRCh38: Chr6:73600375	SLC17A5		Salla disease	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 214466934.	NM_012434.5(SLC17A5):c.94+15C>A GRCh37: Chr6:74363501 GRCh38: Chr6:73653778	SLC17A5		Salla disease	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 213999135.	NM_012434.5(SLC17A5):c.292-13C>G GRCh37: Chr6:74351660 GRCh38: Chr6:73641937	SLC17A5		Salla disease	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 213947736.	NM_012434.5(SLC17A5):c.373C>T (p.Pro125Ser) GRCh37: Chr6:74351566 GRCh38: Chr6:73641843	SLC17A5	P132S, P48S, P125S	Salla disease	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 213882337.	NM_012434.5(SLC17A5):c.590A>G (p.Lys197Arg) GRCh37: Chr6:74348158 GRCh38: Chr6:73638435	SLC17A5	K204R, K197R, K120R	Salla disease	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 213015938.	NM_012434.5(SLC17A5):c.780T>C (p.His260=) GRCh37: Chr6:74345144 GRCh38: Chr6:73635421	SLC17A5		Salla disease	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 212441439.	NM_012434.5(SLC17A5):c.578T>C (p.Leu193Pro) GRCh37: Chr6:74348170 GRCh38: Chr6:73638447	SLC17A5	L116P, L193P, L200P	Salla disease	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 211419940.	NM_012434.5(SLC17A5):c.127G>A (p.Ala43Thr) GRCh37: Chr6:74354294 GRCh38: Chr6:73644571	SLC17A5	A43T	Salla disease	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 211144041.	NM_012434.5(SLC17A5):c.114T>C (p.Ala38=) GRCh37: Chr6:74354307 GRCh38: Chr6:73644584	SLC17A5		Salla disease	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 211053542.	NM_012434.5(SLC17A5):c.531T>A (p.Val177=) GRCh37: Chr6:74348217 GRCh38: Chr6:73638494	SLC17A5		Salla disease	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 210875743.	NM_012434.5(SLC17A5):c.1473T>C (p.His491=) GRCh37: Chr6:74304815 GRCh38: Chr6:73595092	SLC17A5	M524T, M461T	Salla disease	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 210253944.	NM_012434.5(SLC17A5):c.575del (p.Pro192fs) GRCh37: Chr6:74348173 GRCh38: Chr6:73638450	SLC17A5	P199fs, P192fs, P115fs	Salla disease	Pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 209872245.	NM_012434.5(SLC17A5):c.479del (p.Gly160fs) GRCh37: Chr6:74351460 GRCh38: Chr6:73641737	SLC17A5	G83fs, G160fs, G167fs	Salla disease	Pathogenic (Feb 18, 2022)	criteria provided, single submitter
Select item 209573446.	NM_012434.5(SLC17A5):c.1202C>T (p.Thr401Ile) GRCh37: Chr6:74320180 GRCh38: Chr6:73610457	SLC17A5	T401I, T348I, T400I, T295I, T372I, T324I, T408I	Salla disease	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 209537347.	NM_012434.5(SLC17A5):c.1259+18G>A GRCh37: Chr6:74320105 GRCh38: Chr6:73610382	SLC17A5		Salla disease	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 209421148.	NM_012434.5(SLC17A5):c.768G>A (p.Lys256=) GRCh37: Chr6:74345156 GRCh38: Chr6:73635433	SLC17A5		Salla disease	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 208978949.	NM_012434.5(SLC17A5):c.700+8T>A GRCh37: Chr6:74346336 GRCh38: Chr6:73636613	SLC17A5		Salla disease	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 208802050.	NM_012434.5(SLC17A5):c.1149C>T (p.Gly383=) GRCh37: Chr6:74320233 GRCh38: Chr6:73610510	SLC17A5		Salla disease	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 206880251.	NM_012434.5(SLC17A5):c.407A>G (p.Lys136Arg) GRCh37: Chr6:74351532 GRCh38: Chr6:73641809	SLC17A5	K59R, K136R, K143R	Salla disease	Likely pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 206792352.	NM_012434.5(SLC17A5):c.1250T>C (p.Ile417Thr) GRCh37: Chr6:74320132 GRCh38: Chr6:73610409	SLC17A5	I340T, I416T, I388T, I417T, I424T, I311T, I364T	Inborn genetic diseases, Salla disease	Uncertain significance (Apr 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206516153.	NM_012434.5(SLC17A5):c.60G>A (p.Thr20=) GRCh37: Chr6:74363550 GRCh38: Chr6:73653827	SLC17A5	R9H	Salla disease	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 206290354.	NM_012434.5(SLC17A5):c.9T>A (p.Ser3=) GRCh37: Chr6:74363601 GRCh38: Chr6:73653878	SLC17A5		Salla disease	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 205558155.	NM_012434.5(SLC17A5):c.94+7G>C GRCh37: Chr6:74363509 GRCh38: Chr6:73653786	SLC17A5		Salla disease	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 204979756.	NM_012434.5(SLC17A5):c.1375G>A (p.Val459Met) GRCh37: Chr6:74304913 GRCh38: Chr6:73595190	SLC17A5	V353M, V382M, V459M, V406M, V458M, V430M, V466M	Salla disease	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 204874557.	NM_012434.5(SLC17A5):c.792A>G (p.Glu264=) GRCh37: Chr6:74345132 GRCh38: Chr6:73635409	SLC17A5		Salla disease	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 204281158.	NM_012434.5(SLC17A5):c.1374C>T (p.Thr458=) GRCh37: Chr6:74304914 GRCh38: Chr6:73595191	SLC17A5	P428L, P491L	Salla disease	Likely benign (Dec 14, 2021)	criteria provided, single submitter
Select item 203832559.	NM_012434.5(SLC17A5):c.525+3A>G GRCh37: Chr6:74351411 GRCh38: Chr6:73641688	SLC17A5		Salla disease	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 203498460.	NM_012434.5(SLC17A5):c.1182T>C (p.Ala394=) GRCh37: Chr6:74320200 GRCh38: Chr6:73610477	SLC17A5		Salla disease	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 203409061.	NM_012434.5(SLC17A5):c.180G>C (p.Leu60=) GRCh37: Chr6:74354241 GRCh38: Chr6:73644518	SLC17A5		Salla disease	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 203192762.	NM_012434.5(SLC17A5):c.1407T>C (p.Phe469=) GRCh37: Chr6:74304881 GRCh38: Chr6:73595158	SLC17A5	L502S, L439S	Salla disease	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 202674463.	NM_012434.5(SLC17A5):c.1039C>T (p.Gln347Ter) GRCh37: Chr6:74325110 GRCh38: Chr6:73615387	SLC17A5	Q270, Q241, Q294, Q346, Q347, Q354, Q318*	Salla disease	Pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 202628064.	NM_012434.5(SLC17A5):c.828A>C (p.Ser276=) GRCh37: Chr6:74331677 GRCh38: Chr6:73621954	SLC17A5		Salla disease	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 202612565.	NM_012434.5(SLC17A5):c.525+16C>G GRCh37: Chr6:74351398 GRCh38: Chr6:73641675	SLC17A5		Salla disease	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 201940166.	NM_012434.5(SLC17A5):c.525+9C>T GRCh37: Chr6:74351405 GRCh38: Chr6:73641682	SLC17A5		Salla disease	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 201721767.	NM_012434.5(SLC17A5):c.1161T>C (p.Cys387=) GRCh37: Chr6:74320221 GRCh38: Chr6:73610498	SLC17A5		Salla disease	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 201130768.	NM_012434.5(SLC17A5):c.711A>G (p.Gly237=) GRCh37: Chr6:74345213 GRCh38: Chr6:73635490	SLC17A5		Salla disease	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 200615069.	NM_012434.5(SLC17A5):c.192A>G (p.Leu64=) GRCh37: Chr6:74354229 GRCh38: Chr6:73644506	SLC17A5		Salla disease	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 200598170.	NM_012434.5(SLC17A5):c.329G>A (p.Trp110Ter) GRCh37: Chr6:74351610 GRCh38: Chr6:73641887	SLC17A5	W33, W117, W110*	Salla disease	Pathogenic (Jun 29, 2022)	criteria provided, single submitter
Select item 200219371.	NM_012434.5(SLC17A5):c.908G>A (p.Trp303Ter) GRCh37: Chr6:74331597 GRCh38: Chr6:73621874	SLC17A5	W197, W226, W303, W310, W274, W302	Salla disease	Pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 199761072.	NM_012434.5(SLC17A5):c.1111+9A>G GRCh37: Chr6:74325029 GRCh38: Chr6:73615306	SLC17A5		Salla disease	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 199729173.	NM_012434.5(SLC17A5):c.683_698del (p.Tyr228fs) GRCh37: Chr6:74346346-74346361 GRCh38: Chr6:73636623-73636638	SLC17A5	Y227fs, Y151fs, Y228fs, Y235fs	Salla disease	Pathogenic (May 21, 2022)	criteria provided, single submitter
Select item 199524074.	NM_012434.5(SLC17A5):c.1352A>G (p.Asn451Ser) GRCh37: Chr6:74304936 GRCh38: Chr6:73595213	SLC17A5	N345S, N422S, N374S, T421A, N458S, N398S, N450S, N451S, T484A	Salla disease	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 199386875.	NM_012434.5(SLC17A5):c.10C>G (p.Pro4Ala) GRCh37: Chr6:74363600 GRCh38: Chr6:73653877	SLC17A5	P4A	Salla disease	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 198638076.	NM_012434.5(SLC17A5):c.758A>G (p.Gln253Arg) GRCh37: Chr6:74345166 GRCh38: Chr6:73635443	SLC17A5	Q147R, Q176R, Q224R, Q260R, Q252R, Q253R	Salla disease	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 197858377.	NM_012434.5(SLC17A5):c.916del (p.Tyr306fs) GRCh37: Chr6:74331589 GRCh38: Chr6:73621866	SLC17A5	Y306fs, Y277fs, Y305fs, Y313fs, Y229fs, Y200fs	Salla disease	Pathogenic (Jan 12, 2022)	criteria provided, single submitter
Select item 197377678.	NM_012434.5(SLC17A5):c.159G>A (p.Val53=) GRCh37: Chr6:74354262 GRCh38: Chr6:73644539	SLC17A5		Salla disease	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 196507879.	NM_012434.5(SLC17A5):c.1197A>C (p.Ser399=) GRCh37: Chr6:74320185 GRCh38: Chr6:73610462	SLC17A5		Salla disease	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 195456180.	NM_012434.5(SLC17A5):c.1201A>G (p.Thr401Ala) GRCh37: Chr6:74320181 GRCh38: Chr6:73610458	SLC17A5	T401A, T408A, T295A, T348A, T324A, T372A, T400A	Salla disease	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 195384681.	NM_012434.5(SLC17A5):c.701-8A>G GRCh37: Chr6:74345231 GRCh38: Chr6:73635508	SLC17A5		Salla disease	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 193973882.	NM_012434.5(SLC17A5):c.291+7G>T GRCh37: Chr6:74354123 GRCh38: Chr6:73644400	SLC17A5		Salla disease	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 193505983.	NM_012434.5(SLC17A5):c.1349A>G (p.Asp450Gly) GRCh37: Chr6:74310075 GRCh38: Chr6:73600352	SLC17A5	D373G, D421G, D344G, D450G, D397G, D449G, D457G	Salla disease	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 193364884.	NM_012434.5(SLC17A5):c.680C>A (p.Thr227Asn) GRCh37: Chr6:74346364 GRCh38: Chr6:73636641	SLC17A5	T150N, T226N, T227N, T234N	Salla disease	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 193167185.	NM_012434.5(SLC17A5):c.701-16A>G GRCh37: Chr6:74345239 GRCh38: Chr6:73635516	SLC17A5		Salla disease	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 193156186.	NM_012434.5(SLC17A5):c.266C>A (p.Pro89His) GRCh37: Chr6:74354155 GRCh38: Chr6:73644432	SLC17A5	P89H, P96H	Salla disease	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 193121087.	NM_012434.5(SLC17A5):c.1369C>T (p.Gln457Ter) GRCh37: Chr6:74304919 GRCh38: Chr6:73595196	SLC17A5	Q457, Q351, Q380, Q404, Q428, Q456, Q464*	Salla disease	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 192915488.	NM_012434.5(SLC17A5):c.22C>G (p.Leu8Val) GRCh37: Chr6:74363588 GRCh38: Chr6:73653865	SLC17A5	L8V	Salla disease	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 192722289.	NM_012434.5(SLC17A5):c.35A>G (p.Asp12Gly) GRCh37: Chr6:74363575 GRCh38: Chr6:73653852	SLC17A5	D12G, M1V	Salla disease	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 192585690.	NM_012434.5(SLC17A5):c.1344C>T (p.Thr448=) GRCh37: Chr6:74310080 GRCh38: Chr6:73600357	SLC17A5		Salla disease	Likely benign (Jul 7, 2022)	criteria provided, single submitter
Select item 192352091.	NM_012434.5(SLC17A5):c.1A>C (p.Met1Leu) GRCh37: Chr6:74363609 GRCh38: Chr6:73653886	SLC17A5	M1L	Salla disease	Pathogenic (Sep 26, 2022)	criteria provided, single submitter
Select item 191290392.	NM_012434.5(SLC17A5):c.75C>A (p.Gly25=) GRCh37: Chr6:74363535 GRCh38: Chr6:73653812	SLC17A5	A14E	Salla disease	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 191155693.	NM_012434.5(SLC17A5):c.130A>G (p.Ile44Val) GRCh37: Chr6:74354291 GRCh38: Chr6:73644568	SLC17A5	I44V, I51V	Salla disease	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 190906294.	NM_012434.5(SLC17A5):c.1287A>G (p.Thr429=) GRCh37: Chr6:74310137 GRCh38: Chr6:73600414	SLC17A5		Salla disease	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 172648895.	NM_012434.5(SLC17A5):c.857T>A (p.Leu286Ter) GRCh37: Chr6:74331648 GRCh38: Chr6:73621925	SLC17A5	L180, L209, L257, L285, L286, L293	Sialic acid storage disease, severe infantile type, Salla disease	Likely pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 172621296.	NM_012434.5(SLC17A5):c.1035_1036insCTTATACACA (p.Gly346fs) GRCh37: Chr6:74325113-74325114 GRCh38: Chr6:73615390-73615391	SLC17A5	G240fs, G269fs, G293fs, G317fs, G345fs, G346fs, G353fs	Sialic acid storage disease, severe infantile type, Salla disease	Likely pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 172583797.	NM_012434.5(SLC17A5):c.436_437insACTCCTAAAT (p.Thr146delinsAsnSerTer) GRCh37: Chr6:74351502-74351503 GRCh38: Chr6:73641779-73641780	SLC17A5		Sialic acid storage disease, severe infantile type, Salla disease	Likely pathogenic (Apr 2, 2022)	criteria provided, single submitter
Select item 172581698.	NM_012434.5(SLC17A5):c.915_916del (p.Phe305fs) GRCh37: Chr6:74331589-74331590 GRCh38: Chr6:73621866-73621867	SLC17A5	F199fs, F228fs, F276fs, F304fs, F305fs, F312fs	Sialic acid storage disease, severe infantile type, Salla disease	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 172554699.	NM_012434.5(SLC17A5):c.321_322insGTCTCTTATA (p.Gln108fs) GRCh37: Chr6:74351617-74351618 GRCh38: Chr6:73641894-73641895	SLC17A5	Q108fs, Q115fs, Q31fs	Sialic acid storage disease, severe infantile type, Salla disease	Likely pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 1725350100.	NM_012434.5(SLC17A5):c.390del (p.Ser131fs) GRCh37: Chr6:74351549 GRCh38: Chr6:73641826	SLC17A5	S131fs, S138fs, S54fs	Sialic acid storage disease, severe infantile type, Salla disease	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter

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