"PreventionGenetics, part of Exact Sciences"[submitter] AND "KIF5C"[ge - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030109	NM_004522.3(KIF5C):c.306C>T (p.Asp102=)	KIF5C	Single nucleotide variant (synonymous variant)	KIF5C-related disorder	GLikely benign
Select item 3034989	NM_004522.3(KIF5C):c.524C>T (p.Ser175Leu)	KIF5C (S175L)	Single nucleotide variant (missense variant)	KIF5C-related disorder	GLikely benign
Select item 1292561	NM_004522.3(KIF5C):c.525G>A (p.Ser175=)	KIF5C	Single nucleotide variant (synonymous variant)	KIF5C-related disorder +1 more	GBenign
Select item 2630421	NM_004522.3(KIF5C):c.580G>A (p.Ala194Thr)	KIF5C (A194T)	Single nucleotide variant (missense variant)	KIF5C-related disorder	GUncertain significance
Select item 1193797	NM_004522.3(KIF5C):c.771G>A (p.Lys257=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder +1 more	GLikely benign
Select item 1261305	NM_004522.3(KIF5C):c.838C>A (p.Arg280=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3052973	NM_004522.3(KIF5C):c.960C>T (p.Phe320=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder	GLikely benign
Select item 3058340	NM_004522.3(KIF5C):c.1074T>C (p.Asn358=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder	GLikely benign
Select item 3030277	NM_004522.3(KIF5C):c.1294-7G>A	KIF5C	Single nucleotide variant (intron variant)	KIF5C-related disorder	GLikely benign
Select item 871538	NM_004522.3(KIF5C):c.1320G>A (p.Gln440=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder +1 more	GLikely benign
Select item 1290873	NM_004522.3(KIF5C):c.1526C>T (p.Thr509Ile)	KIF5C (T509I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3035998	NM_004522.3(KIF5C):c.1575A>G (p.Thr525=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder	GLikely benign
Select item 390542	NM_004522.3(KIF5C):c.1781T>C (p.Met594Thr)	KIF5C (M594T)	Single nucleotide variant (missense variant +1 more)	KIF5C-related disorder +2 more	GBenign/Likely benign
Select item 3043875	NM_004522.3(KIF5C):c.1830C>T (p.Ser610=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder	GLikely benign
Select item 3042232	NM_004522.3(KIF5C):c.1893G>C (p.Leu631=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder	GLikely benign
Select item 2632003	NM_004522.3(KIF5C):c.2072C>T (p.Thr691Met)	KIF5C (T691M)	Single nucleotide variant (missense variant +1 more)	KIF5C-related disorder	GUncertain significance
Select item 382903	NM_004522.3(KIF5C):c.2169C>T (p.Asp723=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 3029976	NM_004522.3(KIF5C):c.2238G>A (p.Gln746=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder	GLikely benign
Select item 1264832	NM_004522.3(KIF5C):c.2394G>A (p.Leu798=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3050271	NM_004522.3(KIF5C):c.2674C>A (p.Arg892=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder	GLikely benign
Select item 511237	NM_004522.3(KIF5C):c.2728G>T (p.Ala910Ser)	KIF5C (A910S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GLikely benign

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Items: 21