"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "KANK1"[gen - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1651623	NM_015158.5(KANK1):c.9C>T (p.His3=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2571328	NM_015158.5(KANK1):c.38-3361G>A	KANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659019	NM_015158.5(KANK1):c.38-2535T>G	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2659020	NM_015158.5(KANK1):c.38-2A>T	KANK1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 377350	NM_015158.5(KANK1):c.149A>T (p.Asp50Val)	KANK1 (D50V)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 1398091	NM_015158.5(KANK1):c.226C>T (p.Pro76Ser)	KANK1 (P76S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 547042	NM_015158.5(KANK1):c.260C>A (p.Thr87Asn)	KANK1 (T87N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 810341	NM_015158.5(KANK1):c.267T>A (p.Thr89=)	KANK1	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 3067755	NM_015158.5(KANK1):c.386T>C (p.Leu129Pro)	KANK1 (L129P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1623919	NM_015158.5(KANK1):c.528G>A (p.Pro176=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 731545	NM_015158.5(KANK1):c.561T>C (p.Phe187=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 502291	NM_015158.5(KANK1):c.565G>A (p.Gly189Ser)	KANK1 (G189S +1 more)	Single nucleotide variant (missense variant +1 more)	KANK1-related condition +2 more	GLikely benign
Select item 2659021	NM_015158.5(KANK1):c.603T>G (p.Gly201=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 708378	NM_015158.5(KANK1):c.804C>T (p.Ala268=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1676114	NM_015158.5(KANK1):c.817C>T (p.Arg273Cys)	KANK1 (R115C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 744725	NM_015158.5(KANK1):c.1011G>A (p.Arg337=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	Cerebral palsy, spastic quadriplegic, 2 +1 more	GLikely benign
Select item 798004	NM_015158.5(KANK1):c.1263C>T (p.Ser421=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 708379	NM_015158.5(KANK1):c.1377G>A (p.Gln459=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 708380	NM_015158.5(KANK1):c.1517T>C (p.Met506Thr)	KANK1 (M348T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 547043	NM_015158.5(KANK1):c.1697T>C (p.Met566Thr)	KANK1 (M566T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 445752	NM_015158.5(KANK1):c.1760A>G (p.Glu587Gly)	KANK1 (E587G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 810342	NM_015158.5(KANK1):c.2077G>A (p.Glu693Lys)	KANK1 (E693K +1 more)	Single nucleotide variant (missense variant +1 more)	Cerebral palsy, spastic quadriplegic, 2 +2 more	GUncertain significance
Select item 932601	NM_015158.5(KANK1):c.2367G>A (p.Gly789=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1301718	NM_015158.5(KANK1):c.2615C>G (p.Ser872Cys)	KANK1 (S714C +1 more)	Single nucleotide variant (missense variant +1 more)	KANK1-related condition +2 more	GLikely benign
Select item 2196066	NM_015158.5(KANK1):c.3217G>C (p.Glu1073Gln)	KANK1 (E915Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2659022	NM_015158.5(KANK1):c.3334-3C>T	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1360042	NM_015158.5(KANK1):c.3371G>A (p.Arg1124His)	KANK1, LOC126860554 (R1044H +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2659023	NM_015158.5(KANK1):c.3478G>A (p.Gly1160Ser)	KANK1, LOC126860554 (G1002S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 768274	NM_015158.5(KANK1):c.3553+5G>A	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 252574	NM_015158.5(KANK1):c.3554-5T>A	KANK1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 788824	NM_015158.5(KANK1):c.3609G>A (p.Ala1203=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1676116	NM_015158.5(KANK1):c.3744C>T (p.Asp1248=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	Cerebral palsy, spastic quadriplegic, 2 +1 more	GLikely benign
Select item 1701558	NM_015158.5(KANK1):c.3755del (p.Gly1252fs)	KANK1 (G1014fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 717026	NM_015158.5(KANK1):c.3912G>A (p.Ala1304=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2659024	NM_015158.5(KANK1):c.4003C>T (p.Pro1335Ser)	KANK1 (P1079S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 35