LOC129931894[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 1521610	NM_006996.3(SLC19A2):c.170T>C (p.Leu57Pro)	LOC129931894, SLC19A2 (L57P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2877440	NM_006996.3(SLC19A2):c.165G>A (p.Pro55=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697592	NM_006996.3(SLC19A2):c.162C>T (p.Thr54=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836631	NM_006996.3(SLC19A2):c.159G>T (p.Leu53=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188689	NM_006996.3(SLC19A2):c.156C>T (p.Phe52=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 5964	NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu)	LOC129931894, SLC19A2 (P51L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788785	NM_006996.3(SLC19A2):c.150G>A (p.Glu50=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854646	NM_006996.3(SLC19A2):c.148G>T (p.Glu50Ter)	LOC129931894, SLC19A2 (E50*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2856885	NM_006996.3(SLC19A2):c.147C>A (p.Ser49=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766304	NM_006996.3(SLC19A2):c.144G>C (p.Pro48=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744683	NM_006996.3(SLC19A2):c.144G>A (p.Pro48=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766686	NM_006996.3(SLC19A2):c.138C>G (p.Leu46=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032962	NM_006996.3(SLC19A2):c.138C>T (p.Leu46=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833774	NM_006996.3(SLC19A2):c.130G>A (p.Ala44Thr)	LOC129931894, SLC19A2 (A44T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1034343	NM_006996.3(SLC19A2):c.124T>G (p.Phe42Val)	LOC129931894, SLC19A2 (F42V)	Single nucleotide variant (missense variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 2903326	NM_006996.3(SLC19A2):c.120C>T (p.Tyr40=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750582	NM_006996.3(SLC19A2):c.111C>G (p.Leu37=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974979	NM_006996.3(SLC19A2):c.106C>T (p.Leu36=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526293	NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val)	LOC129931894, SLC19A2 (A35V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2861169	NM_006996.3(SLC19A2):c.102C>T (p.Thr34=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 917418	NM_006996.3(SLC19A2):c.98C>A (p.Pro33Gln)	LOC129931894, SLC19A2 (P33Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2704444	NM_006996.3(SLC19A2):c.96G>A (p.Leu32=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792939	NM_006996.3(SLC19A2):c.90_91inv (p.Trp30_Phe31delinsTer)	LOC129931894, SLC19A2	Inversion (nonsense)	not provided	GPathogenic
Select item 2958655	NM_006996.3(SLC19A2):c.81C>G (p.Arg27=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885578	NM_006996.3(SLC19A2):c.81C>T (p.Arg27=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190774	NM_006996.3(SLC19A2):c.77G>T (p.Arg26Leu)	LOC129931894, SLC19A2 (R26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1379000	NM_006996.3(SLC19A2):c.77G>A (p.Arg26His)	LOC129931894, SLC19A2 (R26H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973087	NM_006996.3(SLC19A2):c.75C>G (p.Val25=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830433	NM_006996.3(SLC19A2):c.72G>A (p.Arg24=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795108	NM_006996.3(SLC19A2):c.72G>C (p.Arg24=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 599230	NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs)	SLC19A2, LOC129931894 (T22fs)	Deletion (frameshift variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GPathogenic
Select item 2986393	NM_006996.3(SLC19A2):c.66C>T (p.Thr22=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752609	NM_006996.3(SLC19A2):c.60G>C (p.Leu20=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820078	NM_006996.3(SLC19A2):c.57C>G (p.Leu19=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026154	NM_006996.3(SLC19A2):c.56T>C (p.Leu19Pro)	LOC129931894, SLC19A2 (L19P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184436	NM_006996.3(SLC19A2):c.54G>C (p.Val18=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022606	NM_006996.3(SLC19A2):c.54G>T (p.Val18=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169457	NM_006996.3(SLC19A2):c.52G>C (p.Val18Leu)	LOC129931894, SLC19A2 (V18L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1519220	NM_006996.3(SLC19A2):c.52G>A (p.Val18Met)	LOC129931894, SLC19A2 (V18M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771125	NM_006996.3(SLC19A2):c.48C>T (p.Ala16=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1045678	NM_006996.3(SLC19A2):c.30GGC[7] (p.Ala16dup)	LOC129931894, SLC19A2	Microsatellite (inframe_insertion)	SLC19A2-related disorder +1 more	GLikely benign
Select item 2079261	NM_006996.3(SLC19A2):c.30GGC[4] (p.Ala15_Ala16del)	LOC129931894, SLC19A2	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1928429	NM_006996.3(SLC19A2):c.30GGC[5] (p.Ala16del)	LOC129931894, SLC19A2 (A16del)	Microsatellite (inframe_deletion)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GUncertain significance
Select item 2581986	NM_006996.3(SLC19A2):c.42G>A (p.Ala14=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 876997	NM_006996.3(SLC19A2):c.42G>T (p.Ala14=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2783116	NM_006996.3(SLC19A2):c.39G>A (p.Ala13=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833145	NM_006996.3(SLC19A2):c.36G>A (p.Ala12=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704370	NM_006996.3(SLC19A2):c.36G>C (p.Ala12=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1713682	NM_006996.3(SLC19A2):c.31G>T (p.Ala11Ser)	LOC129931894, SLC19A2 (A11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 876998	NM_006996.3(SLC19A2):c.30G>A (p.Arg10=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GConflicting classifications of pathogenicity
Select item 2992746	NM_006996.3(SLC19A2):c.18G>T (p.Pro6=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791853	NM_006996.3(SLC19A2):c.12C>G (p.Pro4=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735426	NM_006996.3(SLC19A2):c.12C>T (p.Pro4=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038167	NM_006996.3(SLC19A2):c.11C>G (p.Pro4Arg)	LOC129931894, SLC19A2 (P4R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 293534	NM_006996.3(SLC19A2):c.10C>T (p.Pro4Ser)	SLC19A2, LOC129931894 (P4S)	Single nucleotide variant (missense variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance
Select item 2615475	NM_006996.3(SLC19A2):c.6T>G (p.Asp2Glu)	LOC129931894, SLC19A2 (D2E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2057197	NM_006996.3(SLC19A2):c.5A>G (p.Asp2Gly)	LOC129931894, SLC19A2 (D2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2241298	NM_006996.3(SLC19A2):c.4G>C (p.Asp2His)	LOC129931894, SLC19A2 (D2H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 293535	NM_006996.3(SLC19A2):c.-2G>A	LOC129931894, SLC19A2	Single nucleotide variant (5 prime UTR variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance

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Items: 67