23096[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 154673	GRCh38/hg38 10q22.1(chr10:71169571-71556196)x1	CDH23, CDH23-AS1 +13 more	Copy number loss	See cases	GUncertain significance
Select item 155353	GRCh38/hg38 10q22.1(chr10:71211967-71614160)x1	CDH23, CDH23-AS1 +12 more	Copy number loss	See cases	GUncertain significance
Select item 1280554	NC_000010.11:g.71319105C>G	LOC130004025, SLC29A3	Single nucleotide variant	not provided	GBenign
Select item 130334	NM_018344.5(SLC29A3):c.-63C>T	LOC130004025, SLC29A3	Single nucleotide variant	H syndrome +1 more	GBenign
Select item 300355	NM_018344.6(SLC29A3):c.-31G>C	LOC130004025, SLC29A3	Single nucleotide variant (5 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 300356	NM_018344.6(SLC29A3):c.-23C>T	LOC130004025, SLC29A3	Single nucleotide variant (5 prime UTR variant +1 more)	H syndrome	GUncertain significance
Select item 583783	NC_000010.10:g.(?_73079047)_(73082831_?)dup	LOC130004025, SLC29A3	Duplication	H syndrome	GUncertain significance
Select item 877161	NM_018344.6(SLC29A3):c.-7C>T	LOC130004025, SLC29A3	Single nucleotide variant (5 prime UTR variant +1 more)	H syndrome	GBenign
Select item 2136876	NM_018344.6(SLC29A3):c.1+2T>G	LOC130004025, SLC29A3	Single nucleotide variant (5 prime UTR variant +2 more)	H syndrome	GLikely pathogenic
Select item 1928581	NM_018344.6(SLC29A3):c.1+8C>T	LOC130004025, SLC29A3	Single nucleotide variant (5 prime UTR variant +1 more)	H syndrome	GLikely benign
Select item 2818547	NM_018344.6(SLC29A3):c.1+14G>C	SLC29A3, LOC130004025	Single nucleotide variant (5 prime UTR variant +1 more)	H syndrome	GLikely benign
Select item 1220931	NM_018344.6(SLC29A3):c.1+80G>A	LOC130004025, SLC29A3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1272485	NM_018344.6(SLC29A3):c.1+162T>C	LOC130004025, SLC29A3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1239908	NM_018344.6(SLC29A3):c.1+235C>G	SLC29A3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1601707	NM_018344.6(SLC29A3):c.2-17C>T	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GBenign
Select item 1560200	NM_018344.6(SLC29A3):c.2-12T>C	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely benign
Select item 1567092	NM_018344.6(SLC29A3):c.2-6C>T	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely benign
Select item 2441776	NM_018344.6(SLC29A3):c.2-4A>G	SLC29A3	Single nucleotide variant (intron variant)	H syndrome	GLikely pathogenic
Select item 3024163	NM_018344.6(SLC29A3):c.2T>A (p.Met1Lys)	SLC29A3 (M1K)	Single nucleotide variant (missense variant +2 more)	H syndrome	GLikely pathogenic
Select item 1019351	NM_018344.6(SLC29A3):c.5C>T (p.Ala2Val)	SLC29A3 (A2V)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 3018590	NM_018344.6(SLC29A3):c.6C>T (p.Ala2=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 1515061	NM_018344.6(SLC29A3):c.7G>A (p.Val3Ile)	SLC29A3 (V3I)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 1357260	NM_018344.6(SLC29A3):c.10G>A (p.Val4Ile)	SLC29A3 (V4I)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 972053	NM_018344.6(SLC29A3):c.18G>A (p.Glu6=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 1387106	NM_018344.6(SLC29A3):c.21C>A (p.Asp7Glu)	SLC29A3 (D7E)	Single nucleotide variant (missense variant +2 more)	H syndrome +1 more	GUncertain significance
Select item 1102561	NM_018344.6(SLC29A3):c.21C>T (p.Asp7=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 581253	NM_018344.6(SLC29A3):c.22G>A (p.Asp8Asn)	SLC29A3 (D8N)	Single nucleotide variant (missense variant +2 more)	H syndrome +1 more	GUncertain significance
Select item 1492879	NM_018344.6(SLC29A3):c.31C>G (p.His11Asp)	SLC29A3 (H11D)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 536248	NM_018344.6(SLC29A3):c.40A>G (p.Asn14Asp)	SLC29A3 (N14D)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 1560152	NM_018344.6(SLC29A3):c.51_52inv (p.Arg18Gly)	SLC29A3 (R18G)	Inversion (non-coding transcript variant +2 more)	H syndrome	GLikely benign
Select item 130342	NM_018344.6(SLC29A3):c.52A>G (p.Arg18Gly)	SLC29A3 (R18G)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 2783465	NM_018344.6(SLC29A3):c.59_60dup (p.Ser21fs)	SLC29A3 (S21fs)	Microsatellite (frameshift variant +2 more)	H syndrome	GPathogenic
Select item 2741837	NM_018344.6(SLC29A3):c.57C>G (p.Thr19=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 937842	NM_018344.6(SLC29A3):c.59C>G (p.Thr20Arg)	SLC29A3 (T20R)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 2760413	NM_018344.6(SLC29A3):c.67_70del (p.Leu24fs)	SLC29A3 (L24fs)	Deletion (frameshift variant +2 more)	H syndrome	GPathogenic
Select item 571603	NM_018344.6(SLC29A3):c.68G>A (p.Ser23Asn)	SLC29A3 (S23N)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 212200	NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter)	SLC29A3 (R25*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287168	NM_018344.6(SLC29A3):c.74G>A (p.Arg25Gln)	SLC29A3 (R25Q)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GLikely benign
Select item 1487183	NM_018344.6(SLC29A3):c.80A>T (p.Asp27Val)	SLC29A3 (D27V)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 1051546	NM_018344.6(SLC29A3):c.89C>T (p.Ala30Val)	SLC29A3 (A30V)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 1366169	NM_018344.6(SLC29A3):c.101_104dup (p.Leu36fs)	SLC29A3 (L36fs)	Duplication (frameshift variant +2 more)	H syndrome	GPathogenic
Select item 565956	NM_018344.6(SLC29A3):c.104T>G (p.Leu35Arg)	SLC29A3 (L35R)	Single nucleotide variant (missense variant +2 more)	H syndrome +1 more	GUncertain significance
Select item 1471572	NM_018344.6(SLC29A3):c.111C>A (p.Asp37Glu)	SLC29A3 (D37E)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 1089749	NM_018344.6(SLC29A3):c.111C>T (p.Asp37=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 1025650	NM_018344.6(SLC29A3):c.112C>T (p.Arg38Cys)	SLC29A3 (R38C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 860275	NM_018344.6(SLC29A3):c.113G>A (p.Arg38His)	SLC29A3 (R38H)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 938915	NM_018344.6(SLC29A3):c.116C>T (p.Pro39Leu)	SLC29A3 (P39L)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 2785697	NM_018344.6(SLC29A3):c.117G>T (p.Pro39=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 1665844	NM_018344.6(SLC29A3):c.117G>A (p.Pro39=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 915355	NM_018344.6(SLC29A3):c.122del (p.Pro41fs)	SLC29A3 (P41fs)	Deletion (frameshift variant +2 more)	H syndrome	GPathogenic
Select item 1082167	NM_018344.6(SLC29A3):c.120C>T (p.Pro40=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2090383	NM_018344.6(SLC29A3):c.128T>C (p.Leu43Pro)	SLC29A3 (L43P)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 287285	NM_018344.6(SLC29A3):c.128T>G (p.Leu43Arg)	SLC29A3 (L43R)	Single nucleotide variant (missense variant +2 more)	H syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1924194	NM_018344.6(SLC29A3):c.135G>T (p.Arg45Ser)	SLC29A3 (R45S)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 878196	NM_018344.6(SLC29A3):c.138C>T (p.Pro46=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GConflicting classifications of pathogenicity
Select item 862781	NM_018344.6(SLC29A3):c.139G>T (p.Glu47Ter)	SLC29A3 (E47*)	Single nucleotide variant (nonsense +2 more)	H syndrome	GPathogenic
Select item 1089816	NM_018344.6(SLC29A3):c.144C>T (p.Asp48=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 940035	NM_018344.6(SLC29A3):c.145C>T (p.Arg49Cys)	SLC29A3 (R49C)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 567196	NM_018344.6(SLC29A3):c.146G>C (p.Arg49Pro)	SLC29A3 (R49P)	Single nucleotide variant (missense variant +2 more)	H syndrome +1 more	GUncertain significance
Select item 536249	NM_018344.6(SLC29A3):c.148T>C (p.Phe50Leu)	SLC29A3 (F50L)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 714721	NM_018344.6(SLC29A3):c.159A>T (p.Thr53=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 536254	NM_018344.6(SLC29A3):c.159A>G (p.Thr53=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 2059288	NM_018344.6(SLC29A3):c.163A>G (p.Ile55Val)	SLC29A3 (I55V)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 1383191	NM_018344.6(SLC29A3):c.163A>C (p.Ile55Leu)	SLC29A3 (I55L)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 1158951	NM_018344.6(SLC29A3):c.165C>T (p.Ile55=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 1161420	NM_018344.6(SLC29A3):c.177C>T (p.Ser59=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 1432504	NM_018344.6(SLC29A3):c.182G>A (p.Gly61Asp)	SLC29A3 (G61D)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 2877067	NM_018344.6(SLC29A3):c.185T>C (p.Ile62Thr)	SLC29A3 (I62T)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 2087360	NM_018344.6(SLC29A3):c.192T>C (p.Ser64=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 772944	NM_018344.6(SLC29A3):c.193C>T (p.Leu65=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2771662	NM_018344.6(SLC29A3):c.198G>T (p.Leu66=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 286630	NM_018344.6(SLC29A3):c.199C>T (p.Pro67Ser)	SLC29A3 (P67S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2876710	NM_018344.6(SLC29A3):c.201A>G (p.Pro67=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 1421961	NM_018344.6(SLC29A3):c.207CTT[1] (p.Phe71del)	SLC29A3 (F71del)	Microsatellite (inframe_deletion +2 more)	H syndrome	GUncertain significance
Select item 2240462	NM_018344.6(SLC29A3):c.214A>T (p.Ile72Phe)	SLC29A3 (I72F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 878197	NM_018344.6(SLC29A3):c.219T>C (p.Thr73=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GUncertain significance
Select item 2045617	NM_018344.6(SLC29A3):c.225G>C (p.Lys75Asn)	SLC29A3 (K75N)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 967525	NM_018344.6(SLC29A3):c.225G>A (p.Lys75=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 2130744	NM_018344.6(SLC29A3):c.230A>G (p.Tyr77Cys)	SLC29A3 (Y77C)	Single nucleotide variant (missense variant +2 more)	H syndrome	GUncertain significance
Select item 1935638	NM_018344.6(SLC29A3):c.231C>T (p.Tyr77=)	SLC29A3	Single nucleotide variant (synonymous variant +2 more)	H syndrome	GLikely benign
Select item 636986	NM_018344.6(SLC29A3):c.243del (p.Lys81fs)	SLC29A3 (K81fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 845613	NM_018344.6(SLC29A3):c.242A>G (p.Lys81Arg)	SLC29A3 (K3R +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 1407368	NM_018344.6(SLC29A3):c.247C>T (p.Arg83Cys)	SLC29A3 (R83C +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 573745	NM_018344.6(SLC29A3):c.248G>A (p.Arg83His)	SLC29A3 (R83H +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome +1 more	GUncertain significance
Select item 566819	NM_018344.6(SLC29A3):c.252C>G (p.Asn84Lys)	SLC29A3 (N84K +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 1409660	NM_018344.6(SLC29A3):c.257C>T (p.Ser86Phe)	SLC29A3 (S86F +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 2155646	NM_018344.6(SLC29A3):c.260G>A (p.Ser87Asn)	SLC29A3 (S9N +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 1069036	NM_018344.6(SLC29A3):c.269_275del (p.Thr90fs)	SLC29A3 (T12fs +1 more)	Deletion (frameshift variant +1 more)	H syndrome	GPathogenic
Select item 661241	NM_018344.6(SLC29A3):c.269C>T (p.Thr90Ile)	SLC29A3 (T12I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1123345	NM_018344.6(SLC29A3):c.270C>T (p.Thr90=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	H syndrome	GLikely benign
Select item 1503230	NM_018344.6(SLC29A3):c.271G>A (p.Gly91Arg)	SLC29A3 (G13R +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 1980837	NM_018344.6(SLC29A3):c.273G>C (p.Gly91=)	SLC29A3	Single nucleotide variant (synonymous variant +1 more)	H syndrome	GLikely benign
Select item 3164068	NM_018344.6(SLC29A3):c.281C>G (p.Pro94Arg)	SLC29A3 (P16R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1420874	NM_018344.6(SLC29A3):c.290C>T (p.Ser97Leu)	SLC29A3 (S97L +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance
Select item 1383671	NM_018344.6(SLC29A3):c.292G>A (p.Asp98Asn)	SLC29A3 (D20N +1 more)	Single nucleotide variant (missense variant +1 more)	H syndrome	GUncertain significance

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