Related gene-specific medical variations for Gene (Select 386679) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3116846	NM_198693.4(KRTAP10-2):c.98C>A (p.Thr33Asn)	KRTAP10-2, TSPEAR (T33N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116845	NM_198693.4(KRTAP10-2):c.748G>T (p.Gly250Cys)	KRTAP10-2, TSPEAR (G250C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116844	NM_198693.4(KRTAP10-2):c.72G>C (p.Glu24Asp)	KRTAP10-2, TSPEAR (E24D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3116843	NM_198693.4(KRTAP10-2):c.41C>G (p.Thr14Ser)	KRTAP10-2, TSPEAR (T14S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3116841	NM_198693.4(KRTAP10-2):c.32G>T (p.Ser11Ile)	KRTAP10-2, TSPEAR (S11I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3116840	NM_198693.4(KRTAP10-2):c.259C>T (p.Pro87Ser)	KRTAP10-2, TSPEAR (P87S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116839	NM_198693.4(KRTAP10-2):c.155G>C (p.Cys52Ser)	KRTAP10-2, TSPEAR (C52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116838	NM_198693.4(KRTAP10-2):c.115C>T (p.Pro39Ser)	KRTAP10-2, TSPEAR (P39S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591399	NM_198693.4(KRTAP10-2):c.382C>G (p.Pro128Ala)	KRTAP10-2, TSPEAR (P128A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394978	NM_198693.4(KRTAP10-2):c.266G>A (p.Cys89Tyr)	KRTAP10-2, TSPEAR (C89Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357825	NM_198693.4(KRTAP10-2):c.154T>C (p.Cys52Arg)	KRTAP10-2, TSPEAR (C52R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356581	NM_198693.4(KRTAP10-2):c.35C>T (p.Ala12Val)	KRTAP10-2, TSPEAR (A12V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341154	NM_198693.4(KRTAP10-2):c.196G>A (p.Ala66Thr)	KRTAP10-2, TSPEAR (A66T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332470	NM_198693.4(KRTAP10-2):c.712G>A (p.Val238Met)	KRTAP10-2, TSPEAR (V238M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317675	NM_198693.4(KRTAP10-2):c.179C>A (p.Ala60Glu)	KRTAP10-2, TSPEAR (A60E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266521	NM_198693.4(KRTAP10-2):c.640A>G (p.Ser214Gly)	KRTAP10-2, TSPEAR (S214G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224018	NM_198693.4(KRTAP10-2):c.224G>A (p.Cys75Tyr)	KRTAP10-2, TSPEAR (C75Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209168	NM_198693.4(KRTAP10-2):c.730T>G (p.Ser244Ala)	KRTAP10-2, TSPEAR (S244A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204995	NM_198693.4(KRTAP10-2):c.664T>A (p.Ser222Thr)	KRTAP10-2, TSPEAR (S222T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1695030	NM_198693.4(KRTAP10-2):c.693G>C (p.Val231=)	KRTAP10-2, TSPEAR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 20