SLC37A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 155316	GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3	ABCG1, C2CD2 +114 more	Copy number gain	See cases	GLikely benign
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 583914	NC_000021.8:g.(?_43892908)_(44592410_?)dup	LOC130066769, LOC130066770 +45 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 3164513	NM_001320537.2(SLC37A1):c.8G>A (p.Arg3Gln)	SLC37A1 (R3Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382253	NM_001320537.2(SLC37A1):c.16G>A (p.Ala6Thr)	SLC37A1 (A6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457555	NM_001320537.2(SLC37A1):c.25C>T (p.Arg9Cys)	SLC37A1 (R9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529212	NM_001320537.2(SLC37A1):c.64G>A (p.Ala22Thr)	SLC37A1 (A22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614834	NM_001320537.2(SLC37A1):c.95A>G (p.Tyr32Cys)	SLC37A1 (Y32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319679	NM_001320537.2(SLC37A1):c.152A>G (p.Lys51Arg)	SLC37A1 (K51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249764	NM_001320537.2(SLC37A1):c.172G>A (p.Glu58Lys)	SLC37A1 (E58K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784885	NM_001320537.2(SLC37A1):c.181G>A (p.Val61Ile)	SLC37A1 (V61I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3164511	NM_001320537.2(SLC37A1):c.217G>A (p.Ala73Thr)	SLC37A1 (A73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624370	NM_001320537.2(SLC37A1):c.226C>G (p.His76Asp)	SLC37A1 (H76D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559523	NM_001320537.2(SLC37A1):c.250G>A (p.Asp84Asn)	SLC37A1 (D84N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286799	NM_001320537.2(SLC37A1):c.334G>A (p.Val112Met)	SLC37A1 (V112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387943	NM_001320537.2(SLC37A1):c.343T>A (p.Tyr115Asn)	SLC37A1 (Y115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389753	NM_001320537.2(SLC37A1):c.367C>T (p.Arg123Cys)	SLC37A1 (R123C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412419	NM_001320537.2(SLC37A1):c.368G>A (p.Arg123His)	SLC37A1 (R123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235989	NM_001320537.2(SLC37A1):c.403C>T (p.Leu135Phe)	SLC37A1 (L135F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786977	NM_001320537.2(SLC37A1):c.405C>G (p.Leu135=)	SLC37A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777310	NM_001320537.2(SLC37A1):c.405C>T (p.Leu135=)	SLC37A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3164512	NM_001320537.2(SLC37A1):c.449A>G (p.Tyr150Cys)	SLC37A1 (Y150C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332991	NM_001320537.2(SLC37A1):c.466G>A (p.Gly156Arg)	SLC37A1 (G156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727488	NM_001320537.2(SLC37A1):c.495C>T (p.Asn165=)	SLC37A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2617841	NM_001320537.2(SLC37A1):c.604G>A (p.Val202Met)	SLC37A1 (V202M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319682	NM_001320537.2(SLC37A1):c.732T>G (p.His244Gln)	SLC37A1 (H244Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378120	NM_001320537.2(SLC37A1):c.742G>A (p.Val248Ile)	SLC37A1 (V248I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2253502	NM_001320537.2(SLC37A1):c.808C>A (p.Leu270Ile)	SLC37A1 (L270I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466622	NM_001320537.2(SLC37A1):c.839A>G (p.Asn280Ser)	SLC37A1 (N280S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2681555	NM_001320537.2(SLC37A1):c.893C>G (p.Ser298Cys)	SLC37A1 (S298C)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 782669	NM_001320537.2(SLC37A1):c.913G>A (p.Val305Ile)	SLC37A1 (V305I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3164514	NM_001320537.2(SLC37A1):c.941G>A (p.Gly314Asp)	SLC37A1 (G314D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359061	NM_001320537.2(SLC37A1):c.949G>A (p.Ala317Thr)	SLC37A1 (A317T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331860	NM_001320537.2(SLC37A1):c.990A>G (p.Ile330Met)	SLC37A1 (I330M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397906	NM_001320537.2(SLC37A1):c.1066A>C (p.Asn356His)	SLC37A1 (N356H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491693	NM_001320537.2(SLC37A1):c.1076A>G (p.His359Arg)	SLC37A1 (H359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622429	NM_001320537.2(SLC37A1):c.1101G>C (p.Glu367Asp)	SLC37A1 (E367D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622430	NM_001320537.2(SLC37A1):c.1102C>A (p.Leu368Ile)	SLC37A1 (L368I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455075	NM_001320537.2(SLC37A1):c.1108A>T (p.Thr370Ser)	SLC37A1 (T370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784416	NM_001320537.2(SLC37A1):c.1136-7G>A	SLC37A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2604196	NM_001320537.2(SLC37A1):c.1139G>C (p.Gly380Ala)	SLC37A1 (G380A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319680	NM_001320537.2(SLC37A1):c.1180G>T (p.Ala394Ser)	SLC37A1 (A394S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324358	NM_001320537.2(SLC37A1):c.1187C>T (p.Thr396Ile)	SLC37A1 (T396I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778909	NM_001320537.2(SLC37A1):c.1197G>C (p.Leu399=)	SLC37A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2595586	NM_001320537.2(SLC37A1):c.1210G>A (p.Ala404Thr)	SLC37A1 (A404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495621	NM_001320537.2(SLC37A1):c.1211C>T (p.Ala404Val)	SLC37A1 (A404V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318676	NM_001320537.2(SLC37A1):c.1219A>G (p.Thr407Ala)	SLC37A1 (T407A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769135	NM_001320537.2(SLC37A1):c.1221+7C>T	SLC37A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716647	NM_001320537.2(SLC37A1):c.1221+8G>A	SLC37A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3164508	NM_001320537.2(SLC37A1):c.1228A>C (p.Ile410Leu)	SLC37A1 (I410L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711678	NM_001320537.2(SLC37A1):c.1243A>T (p.Ser415Cys)	SLC37A1 (S415C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2350944	NM_001320537.2(SLC37A1):c.1267A>G (p.Ile423Val)	SLC37A1 (I423V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521578	NM_001320537.2(SLC37A1):c.1330G>A (p.Val444Ile)	SLC37A1 (V444I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164509	NM_001320537.2(SLC37A1):c.1339G>A (p.Asp447Asn)	SLC37A1 (D447N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652708	NM_001320537.2(SLC37A1):c.1423+1701_1423+1751dup	SLC37A1	Duplication (intron variant)	not provided	GLikely benign
Select item 2652709	NM_001320537.2(SLC37A1):c.1423+1735_1423+1736insGTTGTCATGCGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCC	SLC37A1	Insertion (intron variant)	not provided	GLikely benign
Select item 2652710	NM_001320537.2(SLC37A1):c.1423+1770C>T	SLC37A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652711	NM_001320537.2(SLC37A1):c.1423+1773C>T	SLC37A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652712	NM_001320537.2(SLC37A1):c.1423+1780G>C	SLC37A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652713	NM_001320537.2(SLC37A1):c.1423+1791_1423+1795del	SLC37A1	Deletion (intron variant)	not provided	GLikely benign
Select item 2652714	NM_001320537.2(SLC37A1):c.1423+1826_1423+1876del	SLC37A1	Deletion (intron variant)	not provided	GLikely benign

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