LOC100128079[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 59989	GRCh38/hg38 16p12.1(chr16:26966063-28234594)x3	C16orf82, GSG1L +59 more	Copy number gain	See cases	GUncertain significance
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 2099485	NM_015202.5(KATNIP):c.1390-13T>C	KATNIP, LOC100128079	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1963116	NM_015202.5(KATNIP):c.1390-10C>T	KATNIP, LOC100128079	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 714687	NM_015202.5(KATNIP):c.1407G>A (p.Arg469=)	KATNIP, LOC100128079	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3112837	NM_015202.5(KATNIP):c.1414G>A (p.Glu472Lys)	KATNIP, LOC100128079 (E472K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2957383	NM_015202.5(KATNIP):c.1434C>T (p.Tyr478=)	KATNIP, LOC100128079	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2076265	NM_015202.5(KATNIP):c.1457A>G (p.Asn486Ser)	KATNIP, LOC100128079 (N486S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1955717	NM_015202.5(KATNIP):c.1469C>T (p.Ser490Leu)	KATNIP, LOC100128079 (S490L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 740532	NM_015202.5(KATNIP):c.1470G>A (p.Ser490=)	KATNIP, LOC100128079	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2148972	NM_015202.5(KATNIP):c.1495G>A (p.Glu499Lys)	KATNIP, LOC100128079 (E499K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 3112838	NM_015202.5(KATNIP):c.1506C>G (p.Asp502Glu)	KATNIP, LOC100128079 (D502E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1958918	NM_015202.5(KATNIP):c.1509G>C (p.Leu503Phe)	KATNIP, LOC100128079 (L503F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3287417	NM_015202.5(KATNIP):c.1519A>G (p.Lys507Glu)	KATNIP, LOC100128079 (K507E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2173490	NM_015202.5(KATNIP):c.1532C>T (p.Ser511Leu)	KATNIP, LOC100128079 (S511L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1682054	NM_015202.5(KATNIP):c.1533G>A (p.Ser511=)	KATNIP, LOC100128079	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3112839	NM_015202.5(KATNIP):c.1552C>T (p.Arg518Trp)	KATNIP, LOC100128079 (R518W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1902867	NM_015202.5(KATNIP):c.1553G>A (p.Arg518Gln)	KATNIP, LOC100128079 (R518Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2419638	NM_015202.5(KATNIP):c.1557C>T (p.Asn519=)	KATNIP, LOC100128079	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1274181	NM_015202.5(KATNIP):c.1565C>T (p.Thr522Met)	KATNIP, LOC100128079 (T522M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 871588	NM_015202.5(KATNIP):c.1582C>T (p.Arg528Cys)	KATNIP, LOC100128079 (R528C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 2605544	NM_015202.5(KATNIP):c.1583G>A (p.Arg528His)	KATNIP, LOC100128079 (R528H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3287419	NM_015202.5(KATNIP):c.1585C>T (p.Leu529Phe)	KATNIP, LOC100128079 (L529F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 720506	NM_015202.5(KATNIP):c.1587C>T (p.Leu529=)	KATNIP, LOC100128079	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2097830	NM_015202.5(KATNIP):c.1601T>C (p.Leu534Ser)	KATNIP, LOC100128079 (L534S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2753073	NM_015202.5(KATNIP):c.1605+7G>A	KATNIP, LOC100128079	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989990	NM_015202.5(KATNIP):c.1605+12G>A	KATNIP, LOC100128079	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279398	NM_015202.5(KATNIP):c.1605+65G>A	KATNIP, LOC100128079	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 37