Related gene-specific medical variations for Gene (Select 203286) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3127025	NM_173551.5(ANKS6):c.1966C>T (p.Arg656Cys)	ANKS6, LOC124310614 (R656C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127024	NM_173551.5(ANKS6):c.1943G>A (p.Arg648Gln)	ANKS6, LOC124310614 (R648Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064978	NM_173551.5(ANKS6):c.1559A>C (p.Lys520Thr)	ANKS6 (K520T)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 3064818	NM_173551.5(ANKS6):c.1159A>C (p.Thr387Pro)	ANKS6 (T387P)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2549436	NM_173551.5(ANKS6):c.1901C>T (p.Ser634Leu)	ANKS6, LOC124310614 (S634L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501784	NM_173551.5(ANKS6):c.2142G>T (p.Lys714Asn)	ANKS6 (K714N)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GLikely pathogenic
Select item 2439104	NM_173551.5(ANKS6):c.1235G>A (p.Arg412Gln)	ANKS6 (R412Q)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GConflicting classifications of pathogenicity
Select item 2176088	NM_173551.5(ANKS6):c.1940G>A (p.Ser647Asn)	ANKS6, LOC124310614 (S647N)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2174014	NM_173551.5(ANKS6):c.1822-18C>T	ANKS6, LOC124310614	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2075640	NM_173551.5(ANKS6):c.1827C>T (p.Pro609=)	ANKS6, LOC124310614	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2073602	NM_173551.5(ANKS6):c.1918G>A (p.Gly640Ser)	ANKS6, LOC124310614 (G640S)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 1971241	NM_173551.5(ANKS6):c.1911A>G (p.Ser637=)	ANKS6, LOC124310614	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 1635867	NM_173551.5(ANKS6):c.1938G>C (p.Val646=)	ANKS6, LOC124310614	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 1385124	NM_173551.5(ANKS6):c.1883C>T (p.Ser628Phe)	ANKS6, LOC124310614 (S628F)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 1011328	NM_173551.5(ANKS6):c.1942C>T (p.Arg648Trp)	ANKS6, LOC124310614 (R648W)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GUncertain significance
Select item 962630	NM_173551.5(ANKS6):c.1948G>A (p.Gly650Ser)	ANKS6, LOC124310614 (G650S)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 742774	NM_173551.5(ANKS6):c.1917C>T (p.Gly639=)	LOC124310614, ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 734787	NM_173551.5(ANKS6):c.1828G>A (p.Val610Ile)	ANKS6, LOC124310614 (V610I)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GBenign
Select item 720674	NM_173551.5(ANKS6):c.1947C>T (p.His649=)	ANKS6, LOC124310614	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 591568	NM_173551.5(ANKS6):c.2473C>T (p.Gln825Ter)	ANKS6 (Q825*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591387	NM_173551.5(ANKS6):c.1618-1G>C	ANKS6	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 474446	NM_173551.5(ANKS6):c.1913C>T (p.Ser638Leu)	ANKS6, LOC124310614 (S638L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 474445	NM_173551.5(ANKS6):c.1902G>A (p.Ser634=)	ANKS6, LOC124310614	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 262847	NM_173551.5(ANKS6):c.1930G>A (p.Val644Ile)	LOC124310614, ANKS6 (V644I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 262846	NM_173551.5(ANKS6):c.1854C>T (p.Leu618=)	ANKS6, LOC124310614	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 262836	NM_173551.5(ANKS6):c.*17C>A	ANKS6	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign

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Links from Gene

Items: 26