23558[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	ACOX1, FBF1 +49 more	Copy number loss	See cases	GPathogenic
Select item 1612091	NM_012478.4(WBP2):c.765G>A (p.Pro255=)	WBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1367795	NM_012478.4(WBP2):c.751C>A (p.Pro251Thr)	WBP2 (P251T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987516	NM_012478.4(WBP2):c.744G>A (p.Pro248=)	WBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419473	NM_012478.4(WBP2):c.740C>T (p.Pro247Leu)	WBP2 (P202L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626123	NM_012478.4(WBP2):c.733-13C>T	WBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2034965	NM_012478.4(WBP2):c.733-17C>T	WBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239008	NM_012478.4(WBP2):c.733-24G>A	WBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1996700	NM_012478.4(WBP2):c.731C>T (p.Thr244Met)	WBP2 (T199M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1633768	NM_012478.4(WBP2):c.723C>T (p.Tyr241=)	WBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021134	NM_012478.4(WBP2):c.717C>T (p.Asn239=)	WBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1409647	NM_012478.4(WBP2):c.682G>A (p.Ala228Thr)	WBP2 (A228T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243088	NM_012478.4(WBP2):c.681C>T (p.Ala227=)	WBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 437832	NM_012478.4(WBP2):c.671C>T (p.Ala224Val)	WBP2 (A224V +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 107	GPathogenic
Select item 3046741	NM_012478.4(WBP2):c.656-9C>T	WBP2	Single nucleotide variant (intron variant)	WBP2-related disorder	GLikely benign
Select item 1563556	NM_012478.4(WBP2):c.656-18G>T	WBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224610	NM_012478.4(WBP2):c.656-117T>C	WBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1628820	NM_012478.4(WBP2):c.655+20G>A	WBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651591	NM_012478.4(WBP2):c.655+11T>C	WBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1402789	NM_012478.4(WBP2):c.634G>A (p.Asp212Asn)	WBP2 (D167N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649920	NM_012478.4(WBP2):c.627C>T (p.Ser209=)	WBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3189700	NM_012478.4(WBP2):c.620C>T (p.Pro207Leu)	WBP2 (P162L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2748545	NM_012478.4(WBP2):c.614A>G (p.Glu205Gly)	WBP2 (E205G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2510218	NM_012478.4(WBP2):c.607C>T (p.Pro203Ser)	WBP2 (P158S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1390325	NM_012478.4(WBP2):c.602C>T (p.Pro201Leu)	WBP2 (P156L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050449	NM_012478.4(WBP2):c.597C>T (p.Pro199=)	WBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780452	NM_012478.4(WBP2):c.594G>A (p.Pro198=)	WBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1444730	NM_012478.4(WBP2):c.593C>T (p.Pro198Leu)	WBP2 (P153L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2477225	NM_012478.4(WBP2):c.587C>T (p.Pro196Leu)	WBP2 (P151L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296024	NM_012478.4(WBP2):c.565G>C (p.Ala189Pro)	WBP2 (A189P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1944237	NM_012478.4(WBP2):c.561C>T (p.Asp187=)	WBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832696	NM_012478.4(WBP2):c.558G>A (p.Met186Ile)	WBP2 (M141I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781331	NM_012478.4(WBP2):c.533-6G>A	WBP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1599848	NM_012478.4(WBP2):c.533-7C>T	WBP2	Single nucleotide variant (intron variant)	WBP2-related disorder +1 more	GBenign/Likely benign
Select item 1660532	NM_012478.4(WBP2):c.533-14C>G	WBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287031	NM_012478.4(WBP2):c.533-77C>T	WBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020359	NM_012478.4(WBP2):c.525C>T (p.Pro175=)	WBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2397200	NM_012478.4(WBP2):c.518C>A (p.Pro173Gln)	WBP2 (P173Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1595593	NM_012478.4(WBP2):c.508T>C (p.Tyr170His)	WBP2 (Y170H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 437833	NM_012478.4(WBP2):c.487A>C (p.Met163Leu)	WBP2 (M163L)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal recessive 107	GPathogenic
Select item 437831	NM_012478.4(WBP2):c.478G>A (p.Ala160Thr)	WBP2 (A160T)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal recessive 107	GPathogenic
Select item 1635962	NM_012478.4(WBP2):c.477C>T (p.Val159=)	WBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1027790	NM_012478.4(WBP2):c.466C>G (p.Pro156Ala)	WBP2 (P156A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3189698	NM_012478.4(WBP2):c.455C>A (p.Ala152Asp)	WBP2 (A152D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1593653	NM_012478.4(WBP2):c.450C>T (p.Ser150=)	WBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2984214	NM_012478.4(WBP2):c.407G>A (p.Gly136Asp)	WBP2 (G136D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2986181	NM_012478.4(WBP2):c.398-3T>G	WBP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2160253	NM_012478.4(WBP2):c.398-4G>A	WBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966055	NM_012478.4(WBP2):c.398-12T>C	WBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899931	NM_012478.4(WBP2):c.397+14G>A	WBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569249	NM_012478.4(WBP2):c.397+13C>T	WBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782882	NM_012478.4(WBP2):c.381C>T (p.Leu127=)	WBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588385	NM_012478.4(WBP2):c.374G>A (p.Arg125Gln)	WBP2 (R125Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1401675	NM_012478.4(WBP2):c.346G>A (p.Ala116Thr)	WBP2 (A116T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2192636	NM_012478.4(WBP2):c.345G>A (p.Thr115=)	WBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906879	NM_012478.4(WBP2):c.344C>T (p.Thr115Met)	WBP2 (T115M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264383	NM_012478.4(WBP2):c.305-5T>C	WBP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1589475	NM_012478.4(WBP2):c.305-8C>A	WBP2	Single nucleotide variant (intron variant)	WBP2-related disorder +1 more	GBenign
Select item 2969892	NM_012478.4(WBP2):c.305-19A>G	WBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751278	NM_012478.4(WBP2):c.305-20C>T	WBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893517	NM_012478.4(WBP2):c.304+6T>A	WBP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2296023	NM_012478.4(WBP2):c.297A>C (p.Glu99Asp)	WBP2 (E99D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1643036	NM_012478.4(WBP2):c.276C>T (p.Ile92=)	WBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1369126	NM_012478.4(WBP2):c.172A>G (p.Ile58Val)	WBP2 (I58V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1630080	NM_012478.4(WBP2):c.169-20C>T	WBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268857	NM_012478.4(WBP2):c.168+36T>C	WBP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1628597	NM_012478.4(WBP2):c.168+19C>A	WBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967238	NM_012478.4(WBP2):c.168+18G>A	WBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210338	NM_012478.4(WBP2):c.161C>G (p.Pro54Arg)	WBP2 (P54R)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 107	GLikely pathogenic
Select item 1907783	NM_012478.4(WBP2):c.136A>G (p.Lys46Glu)	WBP2 (K46E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172245	NM_012478.4(WBP2):c.108G>A (p.Lys36=)	WBP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2462095	NM_012478.4(WBP2):c.98A>G (p.Asn33Ser)	WBP2 (N33S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2531614	NM_012478.4(WBP2):c.88C>T (p.Leu30Phe)	WBP2 (L30F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2334874	NM_012478.4(WBP2):c.77A>G (p.Asp26Gly)	WBP2 (D26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1429042	NM_012478.4(WBP2):c.74A>G (p.Tyr25Cys)	WBP2 (Y25C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373436	NM_012478.4(WBP2):c.74A>T (p.Tyr25Phe)	WBP2 (Y25F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893885	NM_012478.4(WBP2):c.71C>T (p.Ser24Phe)	WBP2 (S24F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3189699	NM_012478.4(WBP2):c.60C>T (p.Ser20=)	WBP2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1565453	NM_012478.4(WBP2):c.60-5C>G	WBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222746	NM_012478.4(WBP2):c.60-41C>T	WBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234306	NM_012478.4(WBP2):c.60-42C>T	WBP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1295006	NM_012478.4(WBP2):c.60-123G>A	WBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273076	NM_012478.4(WBP2):c.59+207G>T	WBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2250252	NM_012478.4(WBP2):c.47A>G (p.Asn16Ser)	WBP2 (N16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2054850	NM_012478.4(WBP2):c.19C>T (p.His7Tyr)	WBP2 (H7Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2684856	GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	ACOX1, CASKIN2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	SLC26A11, SLC38A10 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687680	GRCh37/hg19 17q25.1(chr17:73596063-73959466)x3	ACOX1, FBF1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564473	GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3	CASKIN2, CDK3 +21 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443158	GRCh37/hg19 17q25.1(chr17:73757329-73992584)x3	ACOX1, FBF1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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