9294[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	ACP5, ANGPTL6 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	ANGPTL6, AP1M2 +184 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	AP1M2, ATG4D +116 more	Copy number gain	See cases	GPathogenic
Select item 1199924	NM_004230.4(S1PR2):c.*138C>T	S1PR2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1199706	NM_004230.4(S1PR2):c.*80G>A	S1PR2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1270177	NM_004230.4(S1PR2):c.*77T>G	S1PR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 506084	NM_004230.4(S1PR2):c.1050C>T (p.Asn350=)	S1PR2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2149547	NM_004230.4(S1PR2):c.1034C>T (p.Thr345Met)	S1PR2 (T345M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929888	NM_004230.4(S1PR2):c.1032C>T (p.Pro344=)	S1PR2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1588480	NM_004230.4(S1PR2):c.1026G>A (p.Thr342=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833717	NM_004230.4(S1PR2):c.999C>T (p.Ser333=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118319	NM_004230.4(S1PR2):c.993C>T (p.Ser331=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1879416	NM_004230.4(S1PR2):c.986G>A (p.Arg329His)	S1PR2 (R329H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301661	NM_004230.4(S1PR2):c.985C>T (p.Arg329Cys)	S1PR2 (R329C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 68	GUncertain significance
Select item 1618993	NM_004230.4(S1PR2):c.981A>G (p.Pro327=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973543	NM_004230.4(S1PR2):c.963G>A (p.Pro321=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 929890	NM_004230.4(S1PR2):c.955G>A (p.Gly319Arg)	S1PR2 (G319R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1301201	NM_004230.4(S1PR2):c.944G>A (p.Arg315Gln)	S1PR2 (R315Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1212513	NM_004230.4(S1PR2):c.943C>T (p.Arg315Trp)	S1PR2 (R315W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1301247	NM_004230.4(S1PR2):c.934G>C (p.Val312Leu)	S1PR2 (V312L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929889	NM_004230.4(S1PR2):c.923C>T (p.Pro308Leu)	S1PR2 (P308L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1210475	NM_004230.4(S1PR2):c.919A>T (p.Arg307Trp)	S1PR2 (R307W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 506085	NM_004230.4(S1PR2):c.919A>C (p.Arg307=)	S1PR2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 513460	NM_004230.4(S1PR2):c.903G>A (p.Arg301=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1104730	NM_004230.4(S1PR2):c.901C>T (p.Arg301Trp)	S1PR2 (R301W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2495745	NM_004230.4(S1PR2):c.890G>C (p.Arg297Pro)	S1PR2 (R297P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465758	NM_004230.4(S1PR2):c.889C>T (p.Arg297Trp)	S1PR2 (R297W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732065	NM_004230.4(S1PR2):c.882C>T (p.Asp294=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 517644	NM_004230.4(S1PR2):c.878G>A (p.Arg293Gln)	S1PR2 (R293Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388665	NM_004230.4(S1PR2):c.877C>T (p.Arg293Trp)	S1PR2 (R293W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2061068	NM_004230.4(S1PR2):c.863A>G (p.Tyr288Cys)	S1PR2 (Y288C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2392403	NM_004230.4(S1PR2):c.860T>C (p.Ile287Thr)	S1PR2 (I287T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 506086	NM_004230.4(S1PR2):c.857T>C (p.Val286Ala)	S1PR2 (V286A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1210576	NM_004230.4(S1PR2):c.855C>T (p.Pro285=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 681377	NM_004230.4(S1PR2):c.844C>T (p.Leu282=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1215335	NM_004230.4(S1PR2):c.826G>A (p.Val276Ile)	S1PR2 (V276I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2116951	NM_004230.4(S1PR2):c.794C>A (p.Pro265Gln)	S1PR2 (P265Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930015	NM_004230.4(S1PR2):c.781G>A (p.Val261Ile)	S1PR2 (V261I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1206711	NM_004230.4(S1PR2):c.744C>A (p.Pro248=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 666749	NM_004230.4(S1PR2):c.729C>T (p.Ile243=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2346340	NM_004230.4(S1PR2):c.721G>A (p.Val241Ile)	S1PR2 (V241I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1223463	NM_004230.4(S1PR2):c.717A>G (p.Leu239=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2074168	NM_004230.4(S1PR2):c.702G>A (p.Thr234=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 682601	NM_004230.4(S1PR2):c.678G>A (p.Pro226=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1120057	NM_004230.4(S1PR2):c.673G>A (p.Ala225Thr)	S1PR2 (A225T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 506087	NM_004230.4(S1PR2):c.672C>T (p.Ala224=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2985867	NM_004230.4(S1PR2):c.664G>C (p.Asp222His)	S1PR2 (D222H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068875	NM_004230.4(S1PR2):c.650G>A (p.Arg217His)	S1PR2 (R217H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514987	NM_004230.4(S1PR2):c.642C>T (p.Cys214=)	S1PR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1395093	NM_004230.4(S1PR2):c.632G>A (p.Arg211His)	S1PR2 (R211H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805520	NM_004230.4(S1PR2):c.615C>T (p.Ile205=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1427405	NM_004230.4(S1PR2):c.578G>T (p.Cys193Phe)	S1PR2 (C193F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300381	NM_004230.4(S1PR2):c.574C>T (p.Leu192=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2852787	NM_004230.4(S1PR2):c.570T>C (p.Tyr190=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2393462	NM_004230.4(S1PR2):c.565C>G (p.His189Asp)	S1PR2 (H189D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 666750	NM_004230.4(S1PR2):c.558C>T (p.Tyr186=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1532733	NM_004230.4(S1PR2):c.486C>T (p.Leu162=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1214728	NM_004230.4(S1PR2):c.480G>A (p.Leu160=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1201244	NM_004230.4(S1PR2):c.477G>A (p.Ser159=)	S1PR2	Single nucleotide variant (synonymous variant)	S1PR2-related condition +1 more	GBenign/Likely benign
Select item 521969	NM_004230.4(S1PR2):c.476C>T (p.Ser159Leu)	S1PR2 (S159L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 746652	NM_004230.4(S1PR2):c.465G>A (p.Ser155=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017804	NM_004230.4(S1PR2):c.456C>T (p.Ile152=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2036992	NM_004230.4(S1PR2):c.444G>C (p.Met148Ile)	S1PR2 (M148I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1570512	NM_004230.4(S1PR2):c.429C>T (p.Asp143=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1356452	NM_004230.4(S1PR2):c.424A>G (p.Ser142Gly)	S1PR2 (S142G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 219249	NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys)	S1PR2 (Y140C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 68	GPathogenic
Select item 3017972	NM_004230.4(S1PR2):c.411C>T (p.Val137=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1710821	NM_004230.4(S1PR2):c.407A>G (p.Lys136Arg)	S1PR2 (K136R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167236	NM_004230.4(S1PR2):c.393C>T (p.His131=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949246	NM_004230.4(S1PR2):c.388C>T (p.Arg130Cys)	S1PR2 (R130C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2605761	NM_004230.4(S1PR2):c.380C>T (p.Ala127Val)	S1PR2 (A127V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330977	NM_004230.4(S1PR2):c.344C>T (p.Thr115Met)	S1PR2 (T115M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1810679	NM_004230.4(S1PR2):c.341T>G (p.Ile114Ser)	S1PR2 (I114S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916333	NM_004230.4(S1PR2):c.333T>C (p.Ser111=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 219259	NM_004230.4(S1PR2):c.323G>C (p.Arg108Pro)	S1PR2 (R108P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 68	GPathogenic
Select item 1216964	NM_004230.4(S1PR2):c.297G>A (p.Arg99=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 681392	NM_004230.4(S1PR2):c.291G>A (p.Thr97=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021479	NM_004230.4(S1PR2):c.290C>T (p.Thr97Met)	S1PR2 (T97M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1591153	NM_004230.4(S1PR2):c.258C>T (p.Phe86=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 506088	NM_004230.4(S1PR2):c.249C>T (p.Gly83=)	S1PR2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1461286	NM_004230.4(S1PR2):c.230C>T (p.Ala77Val)	S1PR2 (A77V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703407	NM_004230.4(S1PR2):c.229G>A (p.Ala77Thr)	S1PR2 (A77T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2996520	NM_004230.4(S1PR2):c.228C>T (p.Ala76=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874388	NM_004230.4(S1PR2):c.198G>A (p.Ser66=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768748	NM_004230.4(S1PR2):c.179G>A (p.Arg60Gln)	S1PR2 (R60Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2546444	NM_004230.4(S1PR2):c.166A>C (p.Ile56Leu)	S1PR2 (I56L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2990872	NM_004230.4(S1PR2):c.113C>G (p.Ala38Gly)	S1PR2 (A38G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346351	NM_004230.4(S1PR2):c.107C>T (p.Ala36Val)	S1PR2 (A36V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2264688	NM_004230.4(S1PR2):c.102G>C (p.Gln34His)	S1PR2 (Q34H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233318	NM_004230.4(S1PR2):c.95C>T (p.Ser32Phe)	S1PR2 (S32F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2717325	NM_004230.4(S1PR2):c.90G>A (p.Thr30=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191086	NM_004230.4(S1PR2):c.81G>A (p.Thr27=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2528861	NM_004230.4(S1PR2):c.80C>T (p.Thr27Met)	S1PR2 (T27M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1514862	NM_004230.4(S1PR2):c.71C>T (p.Thr24Met)	S1PR2 (T24M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2488367	NM_004230.4(S1PR2):c.61A>G (p.Thr21Ala)	S1PR2 (T21A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 508615	NM_004230.4(S1PR2):c.30C>A (p.Asn10Lys)	S1PR2 (N10K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1254068	NM_004230.4(S1PR2):c.-42-29GTCT[4]	S1PR2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1237698	NM_004230.4(S1PR2):c.-42-157G>A	S1PR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249810	NM_004230.4(S1PR2):c.-42-300T>C	S1PR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance

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