125336[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC130062608, LOC130062609 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC130062514, LOC130062515 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LINC01902, LINC01903 +1005 more	Copy number gain	See cases	GPathogenic
Select item 59960	GRCh38/hg38 18q12.2-21.1(chr18:36859191-47164436)x1	ARK2C, ARK2N +119 more	Copy number loss	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	LOC126862765, LOC126862766 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	ACAA2, ADNP2 +887 more	Copy number gain	See cases	GPathogenic
Select item 154629	GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1	ARK2C, ARK2N +147 more	Copy number loss	See cases	GPathogenic
Select item 147605	GRCh38/hg38 18q12.3-21.1(chr18:42335174-46726460)x1	ARK2C, ARK2N +74 more	Copy number loss	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LOC130062712, LOC130062713 +879 more	Copy number gain	See cases	GPathogenic
Select item 58781	GRCh38/hg38 18q12.3-21.1(chr18:45541699-46697357)x3	ARK2C, ARK2N +35 more	Copy number gain	See cases	GPathogenic
Select item 1257132	NM_144612.3(LOXHD1):c.*135A>C	LOXHD1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 178389	NM_001145472.3(LOXHD1):c.3340G>A (p.Gly1114Arg)	LOXHD1 (G1114R)	Single nucleotide variant (missense variant +1 more)	LOXHD1-related condition +2 more	GBenign/Likely benign
Select item 178982	NM_144612.3(LOXHD1):c.3328G>T (p.Ala1110Ser)	LOXHD1 (A1110S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 326822	NM_001384474.1(LOXHD1):c.*124A>G	LOXHD1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 326823	NM_001384474.1(LOXHD1):c.*96G>A	LOXHD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892477	NM_001384474.1(LOXHD1):c.*94T>C	LOXHD1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 326824	NM_001384474.1(LOXHD1):c.*73A>T	LOXHD1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 326825	NM_001384474.1(LOXHD1):c.*19C>T	LOXHD1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 228811	NM_001384474.1(LOXHD1):c.*4G>A	LOXHD1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 450570	NM_001384474.1(LOXHD1):c.6812C>T (p.Pro2271Leu)	LOXHD1 (P2209L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2801991	NM_001384474.1(LOXHD1):c.6794C>T (p.Thr2265Ile)	LOXHD1 (T2203I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2897439	NM_001384474.1(LOXHD1):c.6792C>T (p.Leu2264=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 163883	NM_001384474.1(LOXHD1):c.6783G>A (p.Gly2261=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GConflicting classifications of pathogenicity
Select item 1608606	NM_001384474.1(LOXHD1):c.6780G>A (p.Arg2260=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1088913	NM_001384474.1(LOXHD1):c.6780G>C (p.Arg2260=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 889097	NM_001384474.1(LOXHD1):c.6779G>C (p.Arg2260Pro)	LOXHD1 (R2198P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 766060	NM_001384474.1(LOXHD1):c.6777G>A (p.Lys2259=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1095168	NM_001384474.1(LOXHD1):c.6771C>T (p.Asp2257=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620365	NM_001384474.1(LOXHD1):c.6767T>C (p.Leu2256Pro)	LOXHD1 (L2194P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3025541	NM_001384474.1(LOXHD1):c.6763T>C (p.Trp2255Arg)	LOXHD1 (W2193R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2790072	NM_001384474.1(LOXHD1):c.6759C>T (p.Gly2253=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2235386	NM_001384474.1(LOXHD1):c.6751A>C (p.Asn2251His)	LOXHD1 (N2189H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1587424	NM_001384474.1(LOXHD1):c.6750C>T (p.Phe2250=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2003687	NM_001384474.1(LOXHD1):c.6744C>A (p.Thr2248=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 498529	NM_001384474.1(LOXHD1):c.6743C>T (p.Thr2248Ile)	LOXHD1 (T2186I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 178390	NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2202107	NM_001384474.1(LOXHD1):c.6736G>A (p.Val2246Met)	LOXHD1 (V2246M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2171902	NM_001384474.1(LOXHD1):c.6735C>T (p.Gly2245=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1362640	NM_001384474.1(LOXHD1):c.6733G>A (p.Gly2245Ser)	LOXHD1 (G2183S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3066253	NM_001384474.1(LOXHD1):c.6732del (p.Gly2245fs)	LOXHD1 (G2183fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 2839738	NM_001384474.1(LOXHD1):c.6732C>G (p.Thr2244=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1612409	NM_001384474.1(LOXHD1):c.6732C>T (p.Thr2244=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 889098	NM_001384474.1(LOXHD1):c.6731C>T (p.Thr2244Ile)	LOXHD1 (T2182I +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 1158084	NM_001384474.1(LOXHD1):c.6726C>T (p.Thr2242=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 889099	NM_001384474.1(LOXHD1):c.6723C>T (p.Asn2241=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GConflicting classifications of pathogenicity
Select item 1120127	NM_001384474.1(LOXHD1):c.6716T>C (p.Val2239Ala)	LOXHD1 (V2177A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1616430	NM_001384474.1(LOXHD1):c.6714G>A (p.Glu2238=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 505107	NM_001384474.1(LOXHD1):c.6710T>G (p.Val2237Gly)	LOXHD1 (V2175G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264315	NM_001384474.1(LOXHD1):c.6706A>G (p.Lys2236Glu)	LOXHD1 (K2174E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1103220	NM_001384474.1(LOXHD1):c.6705G>A (p.Glu2235=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881364	NM_001384474.1(LOXHD1):c.6699G>T (p.Leu2233=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1157407	NM_001384474.1(LOXHD1):c.6699G>A (p.Leu2233=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957176	NM_001384474.1(LOXHD1):c.6693C>A (p.Gly2231=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1624662	NM_001384474.1(LOXHD1):c.6684C>T (p.Tyr2228=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2257203	NM_001384474.1(LOXHD1):c.6683A>G (p.Tyr2228Cys)	LOXHD1 (Y467C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1401718	NM_001384474.1(LOXHD1):c.6676A>G (p.Ser2226Gly)	LOXHD1 (S2164G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1085603	NM_001384474.1(LOXHD1):c.6669C>T (p.His2223=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 796785	NM_001384474.1(LOXHD1):c.6666G>A (p.Glu2222=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1447514	NM_001384474.1(LOXHD1):c.6664G>A (p.Glu2222Lys)	LOXHD1 (E2160K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1135521	NM_001384474.1(LOXHD1):c.6660C>A (p.Arg2220=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 326826	NM_001384474.1(LOXHD1):c.6659G>A (p.Arg2220His)	LOXHD1 (R2158H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2830336	NM_001384474.1(LOXHD1):c.6657G>A (p.Val2219=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 383263	NM_001384474.1(LOXHD1):c.6651C>T (p.Arg2217=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2163265	NM_001384474.1(LOXHD1):c.6650G>A (p.Arg2217His)	LOXHD1 (R1010H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2077442	NM_001384474.1(LOXHD1):c.6649C>T (p.Arg2217Cys)	LOXHD1 (R2155C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2119121	NM_001384474.1(LOXHD1):c.6648G>A (p.Leu2216=)	LOXHD1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 517246	NM_001384474.1(LOXHD1):c.6640G>A (p.Gly2214Ser)	LOXHD1 (G2152S +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2746352	NM_001384474.1(LOXHD1):c.6639G>A (p.Leu2213=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1158707	NM_001384474.1(LOXHD1):c.6639G>T (p.Leu2213=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1607837	NM_001384474.1(LOXHD1):c.6637C>T (p.Leu2213=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2457368	NM_001384474.1(LOXHD1):c.6631C>G (p.Leu2211Val)	LOXHD1 (L1100V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2181224	NM_001384474.1(LOXHD1):c.6630G>A (p.Thr2210=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743773	NM_001384474.1(LOXHD1):c.6630G>T (p.Thr2210=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177991	NM_001384474.1(LOXHD1):c.6624G>A (p.Leu2208=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1099459	NM_001384474.1(LOXHD1):c.6621C>T (p.Phe2207=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797851	NM_001384474.1(LOXHD1):c.6615C>T (p.Arg2205=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011310	NM_001384474.1(LOXHD1):c.6612C>T (p.Asp2204=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122955	NM_001384474.1(LOXHD1):c.6606C>T (p.Ser2202=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1413310	NM_001384474.1(LOXHD1):c.6603C>A (p.Gly2201=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2160719	NM_001384474.1(LOXHD1):c.6601G>A (p.Gly2201Ser)	LOXHD1 (G2201S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1936566	NM_001384474.1(LOXHD1):c.6600G>A (p.Arg2200=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 163884	NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln)	LOXHD1 (R2138Q +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GConflicting classifications of pathogenicity
Select item 751829	NM_001384474.1(LOXHD1):c.6598C>A (p.Arg2200=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 506191	NM_001384474.1(LOXHD1):c.6595G>A (p.Glu2199Lys)	LOXHD1 (E2137K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 754507	NM_001384474.1(LOXHD1):c.6594C>T (p.Phe2198=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419508	NM_001384474.1(LOXHD1):c.6585C>G (p.Arg2195=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 47951	NM_001384474.1(LOXHD1):c.6584G>A (p.Arg2195His)	LOXHD1 (R2133H +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 667259	NM_001384474.1(LOXHD1):c.6572A>G (p.Lys2191Arg)	LOXHD1 (K1080R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2093842	NM_001384474.1(LOXHD1):c.6567G>A (p.Glu2189=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414695	NM_001384474.1(LOXHD1):c.6565G>A (p.Glu2189Lys)	LOXHD1 (E428K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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