138050[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000086, LOC130000087 +932 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +417 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC124174256, LOC124174257 +541 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 154596	GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3	ANK1, AP3M2 +122 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	LOC130000302, LOC130000303 +121 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	ANK1, AP3M2 +86 more	Copy number gain	See cases	GPathogenic
Select item 59807	GRCh38/hg38 8p11.21-11.1(chr8:42535063-43541633)x3	CHRNA6, CHRNB3 +34 more	Copy number gain	See cases	GBenign
Select item 147299	GRCh38/hg38 8p11.21-11.1(chr8:42900304-43673207)x3	FNTA, HGSNAT +14 more	Copy number gain	See cases	GUncertain significance
Select item 149238	GRCh38/hg38 8p11.21-11.1(chr8:43003465-43686843)x3	FNTA, HGSNAT +13 more	Copy number gain	See cases	GLikely benign
Select item 150564	GRCh38/hg38 8p11.21-11.1(chr8:43003468-43686841)x3	FNTA, HGSNAT +13 more	Copy number gain	See cases	GBenign
Select item 152192	GRCh38/hg38 8p11.21-11.1(chr8:43103284-43533090)x3	HGSNAT, LOC121740716 +8 more	Copy number gain	See cases	GBenign/Likely benign
Select item 542426	NC_000008.10:g.(?_42958672)_(43054732_?)dup	LOC121740716, HGSNAT +7 more	Duplication	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 154506	GRCh38/hg38 8p11.21-11.1(chr8:43115130-43673207)x3	HGSNAT, LOC121740716 +8 more	Copy number gain	See cases	GUncertain significance
Select item 154505	GRCh38/hg38 8p11.21-11.1(chr8:43115130-43673207)x4	HGSNAT, LOC121740716 +8 more	Copy number gain	See cases	GLikely benign
Select item 153023	GRCh38/hg38 8p11.21-11.1(chr8:43115130-43674590)x3	HGSNAT, LOC121740716 +8 more	Copy number gain	See cases	GBenign
Select item 674251	NM_152419.2(HGSNAT):c.-174G>A	HGSNAT, LOC130000316	Single nucleotide variant	not provided	GBenign
Select item 496550	NM_152419.3(HGSNAT):c.-115_-101dup	HGSNAT, LOC130000316	Duplication	not specified	GUncertain significance
Select item 633266	NM_152419.3(HGSNAT):c.-61_-37dup	LOC130000316, HGSNAT	Duplication (genic upstream transcript variant)	not specified	GUncertain significance
Select item 1205172	NC_000008.11:g.43140436G>A	HGSNAT, LOC130000316	Single nucleotide variant	not provided	GLikely benign
Select item 633267	NM_152419.3(HGSNAT):c.-47_-38GGGCG[3]	LOC130000316, HGSNAT	Microsatellite (genic upstream transcript variant)	not specified	GUncertain significance
Select item 363135	NM_152419.2(HGSNAT):c.-37C>T	HGSNAT, LOC130000316	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 2241915	NM_152419.3(HGSNAT):c.-8CGGCGGGCATGAGCGGG[3] (p.Ala4delinsArgArgAlaTer)	HGSNAT, LOC130000316	Microsatellite (nonsense +2 more)	Inborn genetic diseases	GUncertain significance
Select item 496551	NM_152419.3(HGSNAT):c.-8_9dup (p.Ala4delinsArgArgAlaTer)	HGSNAT, LOC130000316	Duplication (nonsense +2 more)	not specified +1 more	GLikely benign
Select item 910428	NM_152419.3(HGSNAT):c.-3G>C	HGSNAT, LOC130000316	Single nucleotide variant (5 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 1978669	NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)	HGSNAT, LOC130000316 (S2R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GConflicting classifications of pathogenicity
Select item 1534834	NM_152419.3(HGSNAT):c.6C>T (p.Ser2=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2007566	NM_152419.3(HGSNAT):c.10del (p.Ala4fs)	HGSNAT, LOC130000316 (A4fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 1040702	NM_152419.3(HGSNAT):c.7G>C (p.Gly3Arg)	LOC130000316, HGSNAT (G3R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 2170916	NM_152419.3(HGSNAT):c.8G>C (p.Gly3Ala)	HGSNAT, LOC130000316 (G3A)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 558679	NM_152419.3(HGSNAT):c.9_10insCG (p.Ala4fs)	HGSNAT, LOC130000316 (A4fs)	Insertion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-C	GLikely pathogenic
Select item 2935395	NM_152419.3(HGSNAT):c.9G>A (p.Gly3=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2139887	NM_152419.3(HGSNAT):c.10G>C (p.Ala4Pro)	HGSNAT, LOC130000316 (A4P)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GBenign
Select item 1541060	NM_152419.3(HGSNAT):c.12G>C (p.Ala4=)	LOC130000316, HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1143112	NM_152419.3(HGSNAT):c.12G>T (p.Ala4=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 761828	NM_152419.3(HGSNAT):c.12G>A (p.Ala4=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2071762	NM_152419.3(HGSNAT):c.14G>T (p.Gly5Val)	HGSNAT, LOC130000316 (G5V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 363136	NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys)	HGSNAT, LOC130000316 (R6K)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 2921372	NM_152419.3(HGSNAT):c.18G>A (p.Arg6=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2504228	NM_152419.3(HGSNAT):c.20C>T (p.Ala7Val)	HGSNAT, LOC130000316 (A7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1658426	NM_152419.3(HGSNAT):c.21G>A (p.Ala7=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 553290	NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del)	HGSNAT, LOC130000316	Deletion (inframe_deletion +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1550698	NM_152419.3(HGSNAT):c.27C>A (p.Ala9=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2419913	NM_152419.3(HGSNAT):c.28G>C (p.Ala10Pro)	HGSNAT, LOC130000316 (A10P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 550260	NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup)	HGSNAT, LOC130000316	Duplication (inframe_insertion +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
Select item 2941399	NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 968935	NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro)	LOC130000316, HGSNAT (L11P)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1366495	NM_152419.3(HGSNAT):c.43_72del (p.Ala15_Ala24del)	HGSNAT, LOC130000316	Deletion (inframe_deletion +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 2937059	NM_152419.3(HGSNAT):c.34C>T (p.Leu12=)	LOC130000316, HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1529464	NM_152419.3(HGSNAT):c.37C>T (p.Leu13=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1090177	NM_152419.3(HGSNAT):c.39G>C (p.Leu13=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1387849	NM_152419.3(HGSNAT):c.41C>T (p.Ala14Val)	HGSNAT, LOC130000316 (A14V)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 2153513	NM_152419.3(HGSNAT):c.42C>T (p.Ala14=)	LOC130000316, HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1975883	NM_152419.3(HGSNAT):c.42C>A (p.Ala14=)	HGSNAT, LOC130000316	Single nucleotide variant (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1357367	NM_152419.3(HGSNAT):c.43_44delinsTT (p.Ala15Leu)	HGSNAT, LOC130000316 (A15L)	Indel (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 1660267	NM_152419.3(HGSNAT):c.45G>C (p.Ala15=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1107412	NM_152419.3(HGSNAT):c.45G>A (p.Ala15=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1975795	NM_152419.3(HGSNAT):c.48C>T (p.Ser16=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1097873	NM_152419.3(HGSNAT):c.48C>G (p.Ser16=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 552702	NM_152419.3(HGSNAT):c.55_66dup (p.Ser19_Leu22dup)	HGSNAT, LOC130000316	Duplication (inframe_insertion +1 more)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 1663424	NM_152419.3(HGSNAT):c.51G>A (p.Val17=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1971818	NM_152419.3(HGSNAT):c.52C>G (p.Leu18Val)	HGSNAT, LOC130000316 (L18V)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 2936850	NM_152419.3(HGSNAT):c.54G>A (p.Leu18=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2952456	NM_152419.3(HGSNAT):c.57C>T (p.Ser19=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1103401	NM_152419.3(HGSNAT):c.60C>T (p.Ala20=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +2 more	GLikely benign
Select item 910429	NM_152419.3(HGSNAT):c.63G>A (p.Ala21=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GBenign
Select item 2172693	NM_152419.3(HGSNAT):c.64C>G (p.Leu22Val)	HGSNAT, LOC130000316 (L22V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 1633644	NM_152419.3(HGSNAT):c.64C>T (p.Leu22=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1092086	NM_152419.3(HGSNAT):c.66G>A (p.Leu22=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1540562	NM_152419.3(HGSNAT):c.67C>T (p.Leu23=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1146246	NM_152419.3(HGSNAT):c.69G>A (p.Leu23=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2944721	NM_152419.3(HGSNAT):c.74_75del (p.Pro25fs)	HGSNAT, LOC130000316 (P25fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 1077433	NM_152419.3(HGSNAT):c.72C>T (p.Ala24=)	LOC130000316, HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 1396246	NM_152419.3(HGSNAT):c.74C>G (p.Pro25Arg)	HGSNAT, LOC130000316 (P25R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 2040401	NM_152419.3(HGSNAT):c.75C>T (p.Pro25=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1159194	NM_152419.3(HGSNAT):c.78C>T (p.Gly26=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2922144	NM_152419.3(HGSNAT):c.81C>T (p.Gly27=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1413568	NM_152419.3(HGSNAT):c.82T>C (p.Ser28Pro)	HGSNAT, LOC130000316 (S28P)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1412507	NM_152419.3(HGSNAT):c.87_100dup (p.Gln34fs)	HGSNAT, LOC130000316 (Q34fs)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 2942731	NM_152419.3(HGSNAT):c.86C>A (p.Ser29Ter)	HGSNAT, LOC130000316 (S29*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 73 +1 more	GPathogenic
Select item 1324531	NM_152419.3(HGSNAT):c.90dup (p.Arg31fs)	HGSNAT, LOC130000316 (R31fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 760635	NM_152419.3(HGSNAT):c.87G>C (p.Ser29=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 1474682	NM_152419.3(HGSNAT):c.89G>C (p.Gly30Ala)	HGSNAT, LOC130000316 (G30A)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 578653	NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu)	LOC130000316, HGSNAT (G30E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance

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