KATNIP[gene] - ClinVar - NCBI

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	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 1678065	NM_015202.5(KATNIP):c.-2G>A	KATNIP	Single nucleotide variant (5 prime UTR variant)	not provided	GConflicting classifications of pathogenicity
Select item 1682047	NM_015202.5(KATNIP):c.7+15del	KATNIP	Deletion (intron variant)	not provided	GBenign
Select item 2795293	NM_015202.5(KATNIP):c.7+17C>T	KATNIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237629	NM_015202.5(KATNIP):c.7+86G>A	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1962361	NM_015202.5(KATNIP):c.8-18G>A	KATNIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975597	NM_015202.5(KATNIP):c.8-6C>T	KATNIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2419227	NM_015202.5(KATNIP):c.8-5G>T	KATNIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3251831	NM_015202.5(KATNIP):c.19C>T (p.Arg7Ter)	KATNIP (R7*)	Single nucleotide variant (nonsense)	Joubert syndrome 26	GPathogenic
Select item 2153345	NM_015202.5(KATNIP):c.22A>G (p.Lys8Glu)	KATNIP (K8E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690878	NM_015202.5(KATNIP):c.27dup (p.Glu10fs)	KATNIP (E10fs)	Duplication (frameshift variant)	See cases	GLikely pathogenic
Select item 1682048	NM_015202.5(KATNIP):c.26C>A (p.Ala9Asp)	KATNIP (A9D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 768764	NM_015202.5(KATNIP):c.27C>G (p.Ala9=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2543407	NM_015202.5(KATNIP):c.28G>A (p.Glu10Lys)	KATNIP (E10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112898	NM_015202.5(KATNIP):c.46T>G (p.Ser16Ala)	KATNIP (S16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 828110	NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)	KATNIP (R17*)	Single nucleotide variant (nonsense)	Joubert syndrome 26 +1 more	GPathogenic/Likely pathogenic
Select item 739026	NM_015202.5(KATNIP):c.63+9G>T	KATNIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1682049	NM_015202.5(KATNIP):c.63+11C>T	KATNIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977059	NM_015202.5(KATNIP):c.63+17C>A	KATNIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966574	NM_015202.5(KATNIP):c.63+18G>A	KATNIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250543	NM_015202.5(KATNIP):c.64-85G>C	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3112904	NM_015202.5(KATNIP):c.70G>A (p.Ala24Thr)	KATNIP (A24T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1906679	NM_015202.5(KATNIP):c.106G>T (p.Asp36Tyr)	KATNIP (D36Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920658	NM_015202.5(KATNIP):c.126T>C (p.Leu42=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808021	NM_015202.5(KATNIP):c.140G>A (p.Arg47Gln)	KATNIP (R47Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2766470	NM_015202.5(KATNIP):c.140+11C>G	KATNIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987525	NM_015202.5(KATNIP):c.140+16C>T	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1936711	NM_015202.5(KATNIP):c.140+20G>A	KATNIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987257	NM_015202.5(KATNIP):c.141-20A>G	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988770	NM_015202.5(KATNIP):c.141-13G>A	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 766136	NM_015202.5(KATNIP):c.141-4T>G	KATNIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2189308	NM_015202.5(KATNIP):c.160A>G (p.Ser54Gly)	KATNIP (S54G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2419935	NM_015202.5(KATNIP):c.171C>T (p.Pro57=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011395	NM_015202.5(KATNIP):c.177A>G (p.Gln59=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106137	NM_015202.5(KATNIP):c.198G>C (p.Glu66Asp)	KATNIP (E66D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781203	NM_015202.5(KATNIP):c.209C>G (p.Ser70Cys)	KATNIP (S70C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 745690	NM_015202.5(KATNIP):c.213C>T (p.Val71=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901026	NM_015202.5(KATNIP):c.222C>T (p.Asn74=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341879	NM_015202.5(KATNIP):c.243A>G (p.Lys81=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768765	NM_015202.5(KATNIP):c.246A>G (p.Ser82=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2913310	NM_015202.5(KATNIP):c.252G>A (p.Pro84=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417438	NM_015202.5(KATNIP):c.254G>A (p.Arg85Gln)	KATNIP (R85Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2431062	NM_015202.5(KATNIP):c.274_275del (p.Phe92fs)	KATNIP (F92fs)	Deletion (frameshift variant)	Joubert syndrome 26	GLikely pathogenic
Select item 3016317	NM_015202.5(KATNIP):c.281G>A (p.Arg94Lys)	KATNIP (R94K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2469211	NM_015202.5(KATNIP):c.296C>T (p.Thr99Met)	KATNIP (T99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646341	NM_015202.5(KATNIP):c.297G>A (p.Thr99=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2149748	NM_015202.5(KATNIP):c.304A>G (p.Thr102Ala)	KATNIP (T102A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2064315	NM_015202.5(KATNIP):c.309C>T (p.His103=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1227738	NM_015202.5(KATNIP):c.311-137A>G	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988694	NM_015202.5(KATNIP):c.311-13G>A	KATNIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904865	NM_015202.5(KATNIP):c.311-11C>A	KATNIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2136703	NM_015202.5(KATNIP):c.320G>A (p.Arg107Gln)	KATNIP (R107Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167934	NM_015202.5(KATNIP):c.335G>A (p.Arg112Gln)	KATNIP (R112Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1975093	NM_015202.5(KATNIP):c.348A>G (p.Glu116=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 646229	NM_015202.5(KATNIP):c.358C>T (p.Arg120Cys)	KATNIP (R120C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079181	NM_015202.5(KATNIP):c.367C>T (p.Arg123Trp)	KATNIP (R123W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100624	NM_015202.5(KATNIP):c.370A>G (p.Thr124Ala)	KATNIP (T124A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580453	NM_015202.5(KATNIP):c.378C>A (p.Pro126=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2422078	NM_015202.5(KATNIP):c.391C>T (p.Arg131Cys)	KATNIP (R131C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3112889	NM_015202.5(KATNIP):c.392G>A (p.Arg131His)	KATNIP (R131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036283	NM_015202.5(KATNIP):c.395G>A (p.Arg132Gln)	KATNIP (R132Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112894	NM_015202.5(KATNIP):c.419A>C (p.Gln140Pro)	KATNIP (Q140P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031899	NM_015202.5(KATNIP):c.420G>A (p.Gln140=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related disorder	GLikely benign
Select item 1682050	NM_015202.5(KATNIP):c.442C>T (p.Arg148Trp)	KATNIP (R148W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2117153	NM_015202.5(KATNIP):c.454G>A (p.Glu152Lys)	KATNIP (E152K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078547	NM_015202.5(KATNIP):c.463G>A (p.Val155Met)	KATNIP (V155M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163367	NM_015202.5(KATNIP):c.486G>C (p.Glu162Asp)	KATNIP (E162D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987052	NM_015202.5(KATNIP):c.503C>T (p.Thr168Ile)	KATNIP (T168I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974161	NM_015202.5(KATNIP):c.507C>A (p.Leu169=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768766	NM_015202.5(KATNIP):c.515A>G (p.Asn172Ser)	KATNIP (N172S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3112901	NM_015202.5(KATNIP):c.518A>G (p.Asn173Ser)	KATNIP (N173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112902	NM_015202.5(KATNIP):c.532C>T (p.Arg178Cys)	KATNIP (R178C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1941731	NM_015202.5(KATNIP):c.537G>A (p.Pro179=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751508	NM_015202.5(KATNIP):c.537G>C (p.Pro179=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898945	NM_015202.5(KATNIP):c.540+18C>G	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3352826	NM_015202.5(KATNIP):c.576A>G (p.Leu192=)	KATNIP	Single nucleotide variant (synonymous variant)	KATNIP-related disorder	GLikely benign
Select item 2960908	NM_015202.5(KATNIP):c.579A>G (p.Gln193=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991427	NM_015202.5(KATNIP):c.603C>T (p.Ser201=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728837	NM_015202.5(KATNIP):c.604G>A (p.Asp202Asn)	KATNIP (D202N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 788902	NM_015202.5(KATNIP):c.611A>G (p.Tyr204Cys)	KATNIP (Y204C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2491679	NM_015202.5(KATNIP):c.614A>T (p.Asp205Val)	KATNIP (D205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2419435	NM_015202.5(KATNIP):c.619A>G (p.Ile207Val)	KATNIP (I207V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776999	NM_015202.5(KATNIP):c.628G>T (p.Asp210Tyr)	KATNIP (D210Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1918805	NM_015202.5(KATNIP):c.648G>A (p.Glu216=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242074	NM_015202.5(KATNIP):c.654_655insA (p.Asp219fs)	KATNIP (D219fs)	Insertion (frameshift variant)	Joubert syndrome 26	GLikely pathogenic
Select item 2716194	NM_015202.5(KATNIP):c.660G>A (p.Pro220=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714694	NM_015202.5(KATNIP):c.689G>A (p.Arg230His)	KATNIP (R230H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2623653	NM_015202.5(KATNIP):c.691C>T (p.Pro231Ser)	KATNIP (P231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622971	NM_015202.5(KATNIP):c.695C>T (p.Pro232Leu)	KATNIP (P232L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1342576	NM_015202.5(KATNIP):c.700A>G (p.Ser234Gly)	KATNIP (S234G)	Single nucleotide variant (missense variant)	Joubert syndrome 26	GUncertain significance

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