ClinVar for MedGen (Select 318935) - ClinVar

Links from MedGen

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2674642	NM_022042.4(SLC26A1):c.838C>T (p.Leu280Phe)	SLC26A1 (L280F)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis, calcium oxalate	GUncertain significance
Select item 1801328	NM_022042.4(SLC26A1):c.824T>C (p.Leu275Pro)	IDUA, SLC26A1 (L275P)	Single nucleotide variant (missense variant +1 more)	Hypersulfaturia +1 more	GPathogenic
Select item 1673737	NM_022042.4(SLC26A1):c.1785G>A (p.Pro595=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1671964	NM_022042.4(SLC26A1):c.1557G>A (p.Thr519=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1607740	NM_022042.4(SLC26A1):c.315C>G (p.Ser105=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	Nephrolithiasis, calcium oxalate +1 more	GLikely benign
Select item 1601240	NM_022042.4(SLC26A1):c.181C>T (p.Arg61Cys)	IDUA, SLC26A1 (R61C)	Single nucleotide variant (missense variant +1 more)	SLC26A1-related condition +2 more	GBenign/Likely benign
Select item 1574337	NM_022042.4(SLC26A1):c.639T>C (p.Asp213=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	Nephrolithiasis, calcium oxalate +1 more	GBenign/Likely benign
Select item 1550085	NM_022042.4(SLC26A1):c.1404G>A (p.Pro468=)	SLC26A1, IDUA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1538980	NM_022042.4(SLC26A1):c.1869C>T (p.Asp623=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	SLC26A1-related condition +2 more	GLikely benign
Select item 1517952	NM_022042.4(SLC26A1):c.1286C>T (p.Ala429Val)	SLC26A1, IDUA (A429V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1463536	NM_022042.4(SLC26A1):c.1937_1947del (p.Leu646fs)	IDUA, SLC26A1 (L646fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 1450147	NM_022042.4(SLC26A1):c.1531G>A (p.Ala511Thr)	IDUA, SLC26A1 (A511T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1443863	NM_022042.4(SLC26A1):c.2063G>A (p.Arg688Gln)	IDUA, SLC26A1 (R688Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1443778	NM_022042.4(SLC26A1):c.774G>C (p.Gln258His)	IDUA, SLC26A1 (Q258H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1435603	NM_022042.4(SLC26A1):c.990_997dup (p.Pro333fs)	IDUA, SLC26A1 (P333fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 1430514	NM_022042.4(SLC26A1):c.1813G>A (p.Ala605Thr)	IDUA, SLC26A1 (A605T)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis, calcium oxalate +1 more	GUncertain significance
Select item 1429186	NM_022042.4(SLC26A1):c.637G>A (p.Asp213Asn)	IDUA, SLC26A1 (D213N)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis, calcium oxalate +1 more	GUncertain significance
Select item 1425196	NM_022042.4(SLC26A1):c.1385G>A (p.Arg462Gln)	IDUA, SLC26A1 (R462Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1417171	NM_022042.4(SLC26A1):c.704G>A (p.Arg235Gln)	IDUA, SLC26A1 (R235Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1407651	NM_022042.4(SLC26A1):c.1520G>A (p.Arg507His)	IDUA, SLC26A1 (R507H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1403585	NM_022042.4(SLC26A1):c.1189G>A (p.Ala397Thr)	IDUA, SLC26A1 (A397T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1393657	NM_022042.4(SLC26A1):c.1848C>T (p.Cys616=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1380847	NM_022042.4(SLC26A1):c.311C>T (p.Thr104Met)	IDUA, SLC26A1 (T104M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1363882	NM_022042.4(SLC26A1):c.1394G>A (p.Arg465Gln)	IDUA, SLC26A1 (R465Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1362708	NM_022042.4(SLC26A1):c.316TTC[1] (p.Phe107del)	IDUA, SLC26A1 (F107del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 1348901	NM_022042.4(SLC26A1):c.400G>A (p.Gly134Arg)	IDUA, SLC26A1 (G134R)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis, calcium oxalate +1 more	GUncertain significance
Select item 1168594	NM_022042.4(SLC26A1):c.1686G>A (p.Thr562=)	SLC26A1, IDUA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1166787	NM_022042.4(SLC26A1):c.1667A>G (p.Gln556Arg)	IDUA, SLC26A1 (Q556R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1165975	NM_022042.4(SLC26A1):c.577-15G>A	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1164729	NM_022042.4(SLC26A1):c.654G>A (p.Gly218=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	Nephrolithiasis, calcium oxalate +1 more	GBenign/Likely benign
Select item 1164302	NM_022042.4(SLC26A1):c.1713C>G (p.Ala571=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1160002	NM_022042.4(SLC26A1):c.1854G>A (p.Pro618=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1157513	NM_022042.4(SLC26A1):c.1506C>T (p.Ala502=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1136337	NM_022042.4(SLC26A1):c.153G>C (p.Gln51His)	IDUA, SLC26A1 (Q51H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1110197	NM_022042.4(SLC26A1):c.1152C>T (p.Asn384=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	Nephrolithiasis, calcium oxalate +1 more	GLikely benign
Select item 1091392	NM_022042.4(SLC26A1):c.432C>T (p.Ala144=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	Nephrolithiasis, calcium oxalate +1 more	GLikely benign
Select item 1042021	NM_022042.4(SLC26A1):c.547G>A (p.Ala183Thr)	IDUA, SLC26A1 (A183T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1028745	NM_022042.4(SLC26A1):c.1231C>T (p.Arg411Trp)	IDUA, SLC26A1 (R411W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1026137	NM_022042.4(SLC26A1):c.1316G>A (p.Arg439Gln)	SLC26A1, IDUA (R439Q)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis, calcium oxalate +1 more	GUncertain significance
Select item 1025054	NM_022042.4(SLC26A1):c.535C>T (p.Arg179Cys)	IDUA, SLC26A1 (R179C)	Single nucleotide variant (missense variant +1 more)	Hyperoxaluria +3 more	GUncertain significance
Select item 1022635	NM_022042.4(SLC26A1):c.1585G>A (p.Glu529Lys)	IDUA, SLC26A1 (E529K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1009266	NM_022042.4(SLC26A1):c.1004C>T (p.Pro335Leu)	IDUA, SLC26A1 (P335L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 961738	NM_022042.4(SLC26A1):c.763G>A (p.Gly255Ser)	IDUA, SLC26A1 (G255S)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis, calcium oxalate +1 more	GUncertain significance
Select item 958982	NM_022042.4(SLC26A1):c.1060G>A (p.Ala354Thr)	IDUA, SLC26A1 (A354T)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis, calcium oxalate +2 more	GUncertain significance
Select item 952663	NM_022042.4(SLC26A1):c.1232G>A (p.Arg411Gln)	SLC26A1, IDUA (R411Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 950147	NM_022042.4(SLC26A1):c.1519C>A (p.Arg507Ser)	SLC26A1, IDUA (R507S)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis, calcium oxalate +2 more	GUncertain significance
Select item 860198	NM_022042.4(SLC26A1):c.1244C>T (p.Ser415Phe)	IDUA, SLC26A1 (S415F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 786509	NM_022042.4(SLC26A1):c.171G>A (p.Thr57=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 780438	NM_022042.4(SLC26A1):c.513C>T (p.Cys171=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 773185	NM_022042.4(SLC26A1):c.534C>T (p.Ile178=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	SLC26A1-related condition +2 more	GBenign/Likely benign
Select item 749328	NM_022042.4(SLC26A1):c.1296G>A (p.Pro432=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	Nephrolithiasis, calcium oxalate +1 more	GLikely benign
Select item 725873	NM_022042.4(SLC26A1):c.1511G>A (p.Arg504His)	IDUA, SLC26A1 (R504H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 720732	NM_000203.5(IDUA):c.299+988C>T	IDUA, SLC26A1 (G668R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 717585	NM_022042.4(SLC26A1):c.1116T>C (p.Arg372=)	SLC26A1, IDUA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 376863	NM_022042.4(SLC26A1):c.1115G>A (p.Arg372His)	IDUA, SLC26A1 (R372H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 283426	NM_022042.4(SLC26A1):c.747G>A (p.Trp249Ter)	SLC26A1, IDUA (W249*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 242376	NM_022042.4(SLC26A1):c.166G>A (p.Ala56Thr)	IDUA, SLC26A1 (A56T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 242375	NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu)	IDUA, SLC26A1 (S358L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 242374	NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met)	IDUA, SLC26A1 (T185M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 195038	NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)	IDUA, SLC26A1 (A79T)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +4 more	GBenign/Likely benign; other
Select item 126890	NM_017545.3(HAO1):c.137+329T>C	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126889	NM_017545.3(HAO1):c.289+2189G>C	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126888	NM_017545.3(HAO1):c.289+5965C>T	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126887	NM_017545.3(HAO1):c.289+8188C>T	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126886	NM_017545.3(HAO1):c.290-4862A>G	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126885	NM_017545.3(HAO1):c.290-1983G>A	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126884	NM_017545.3(HAO1):c.545+1171T>C	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126883	NM_017545.3(HAO1):c.721+1617G>C	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126882	NM_017545.3(HAO1):c.814-4211G>A	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126881	NM_017545.3(HAO1):c.814-2945A>G	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126880	NM_017545.2(HAO1):c.*697T>C	HAO1	Single nucleotide variant	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126878	NM_000610.4(CD44):c.2024+779A>G	CD44	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126877	NM_000610.4(CD44):c.923-767T>A	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126876	NM_000610.4(CD44):c.234-905G>A	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126875	NM_000610.4(CD44):c.68-5493C>T	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126874	NM_000610.4(CD44):c.68-5843A>G	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126873	NM_000610.4(CD44):c.68-5908G>A	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126872	NM_000610.4(CD44):c.68-6677C>G	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126871	NM_000610.4(CD44):c.68-9931G>A	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126870	NM_000610.4(CD44):c.68-13570A>T	CD44, SNORD164	Single nucleotide variant (non-coding transcript variant +1 more)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126869	NM_000610.4(CD44):c.68-18471G>A	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126868	NM_000610.4(CD44):c.67+14128T>C	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126867	NM_000610.4(CD44):c.67+11205G>A	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126866	NM_001622.4(AHSG):c.574-149A>G	AHSG	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126865	NM_001622.4(AHSG):c.574-298T>G	AHSG	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126864	NM_198406.3(PAQR6):c.*663C>T	BGLAP, PAQR6	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 92640	NM_022042.4(SLC26A1):c.*878G>A	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis type 1 +4 more	GBenign/Likely benign
Select item 64588	NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr)	IDUA, SLC26A1 (D636Y)	Single nucleotide variant (missense variant +1 more)	SLC26A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 64585	NM_022042.4(SLC26A1):c.1685C>T (p.Thr562Met)	IDUA, SLC26A1 (T562M)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis, calcium oxalate +1 more	GUncertain significance
Select item 64583	NM_000203.5(IDUA):c.299+1368C>T	IDUA, SLC26A1 (R541H)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis, calcium oxalate +2 more	GUncertain significance
Select item 64577	NM_022042.4(SLC26A1):c.1043T>C (p.Leu348Pro)	IDUA, SLC26A1 (L348P)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis, calcium oxalate +1 more	GLikely benign

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Items: 91