"GeneDx"[submitter] AND "KATNIP"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 1237629	NM_015202.5(KATNIP):c.7+86G>A	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
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 1250543	NM_015202.5(KATNIP):c.64-85G>C	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227738	NM_015202.5(KATNIP):c.311-137A>G	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2580453	NM_015202.5(KATNIP):c.378C>A (p.Pro126=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2575816	NM_015202.5(KATNIP):c.842G>C (p.Arg281Pro)	KATNIP (R281P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264066	NM_015202.5(KATNIP):c.924G>A (p.Gln308=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2074763	NM_015202.5(KATNIP):c.931A>T (p.Met311Leu)	KATNIP (M311L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170401	NM_015202.5(KATNIP):c.953G>A (p.Arg318Gln)	KATNIP (R318Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2663746	NM_015202.5(KATNIP):c.1103G>A (p.Ser368Asn)	KATNIP (S368N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1253398	NM_015202.5(KATNIP):c.1113+4C>T	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220854	NM_015202.5(KATNIP):c.1113+303T>C	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3373706	NM_015202.5(KATNIP):c.1129C>G (p.Pro377Ala)	KATNIP (P377A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378082	NM_015202.5(KATNIP):c.1151T>C (p.Leu384Pro)	KATNIP (L384P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1247617	NM_015202.5(KATNIP):c.1286+87C>T	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242897	NM_015202.5(KATNIP):c.1286+282=	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233748	NM_015202.5(KATNIP):c.1389+127C>A	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
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 1279398	NM_015202.5(KATNIP):c.1605+65G>A	KATNIP, LOC100128079	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 941890	NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter)	KATNIP (W577*)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3367873	NM_015202.5(KATNIP):c.2161G>T (p.Val721Leu)	KATNIP (V721L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980165	NM_015202.5(KATNIP):c.2281G>A (p.Gly761Ser)	KATNIP (G761S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1682058	NM_015202.5(KATNIP):c.2373del (p.Asp791fs)	KATNIP (D791fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1258316	NM_015202.5(KATNIP):c.2516A>G (p.Asp839Gly)	KATNIP (D839G)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1244854	NM_015202.5(KATNIP):c.2517C>T (p.Asp839=)	KATNIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1268642	NM_015202.5(KATNIP):c.2624-21C>T	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272480	NM_015202.5(KATNIP):c.2759C>T (p.Pro920Leu)	KATNIP (P920L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2506723	NM_015202.5(KATNIP):c.2788C>T (p.Gln930Ter)	KATNIP (Q930*)	Single nucleotide variant (nonsense)	KATNIP-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1987224	NM_015202.5(KATNIP):c.2803C>T (p.His935Tyr)	KATNIP (H935Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443383	NM_015202.5(KATNIP):c.2914C>A (p.Pro972Thr)	KATNIP (P972T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2443382	NM_015202.5(KATNIP):c.2960del (p.Asp987fs)	KATNIP (D987fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2057777	NM_015202.5(KATNIP):c.3049G>A (p.Asp1017Asn)	KATNIP (D1017N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3112872	NM_015202.5(KATNIP):c.3088G>A (p.Val1030Met)	KATNIP (V1030M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2579394	NM_015202.5(KATNIP):c.3838G>A (p.Glu1280Lys)	KATNIP (E1280K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1227571	NM_015202.5(KATNIP):c.3975+36A>G	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295149	NM_015202.5(KATNIP):c.4103G>A (p.Arg1368Gln)	KATNIP, LOC126862323 (R1368Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1243246	NM_015202.5(KATNIP):c.4310-121G>A	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183409	NM_015202.5(KATNIP):c.4449+208T>G	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227810	NM_015202.5(KATNIP):c.4449+263C>T	KATNIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2499188	NM_015202.5(KATNIP):c.4522A>G (p.Thr1508Ala)	KATNIP (T1508A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 828109	NM_015202.5(KATNIP):c.4711A>G (p.Ser1571Gly)	KATNIP (S1571G)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +1 more	GUncertain significance
Select item 3362178	NM_015202.5(KATNIP):c.3449T>C (p.Leu1150Pro)	KATNIP (L1150P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 46