Related gene-specific medical variations for Gene (Select 89849) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320854	NM_033388.2(ATG16L2):c.37C>T (p.Arg13Cys)	ATG16L2, LOC130006361 (R13C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3278368	NM_014824.3(FCHSD2):c.2143C>T (p.Arg715Trp)	ATG16L2, FCHSD2 (R715W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278367	NM_014824.3(FCHSD2):c.1672C>A (p.Leu558Ile)	ATG16L2, FCHSD2 (L558I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278366	NM_014824.3(FCHSD2):c.1787T>C (p.Ile596Thr)	ATG16L2, FCHSD2 (I596T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278364	NM_014824.3(FCHSD2):c.1532G>A (p.Arg511Gln)	ATG16L2, FCHSD2 (R511Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278363	NM_014824.3(FCHSD2):c.2156C>G (p.Pro719Arg)	ATG16L2, FCHSD2 (P719R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130902	NM_033388.2(ATG16L2):c.597G>C (p.Lys199Asn)	ATG16L2, LOC130006363 (K93N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094131	NM_014824.3(FCHSD2):c.2128A>C (p.Lys710Gln)	ATG16L2, FCHSD2 (K710Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094130	NM_014824.3(FCHSD2):c.1829G>C (p.Gly610Ala)	ATG16L2, FCHSD2 (G610A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615990	NM_014824.3(FCHSD2):c.2039G>C (p.Arg680Pro)	ATG16L2, FCHSD2 (R680P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594975	NM_033388.2(ATG16L2):c.622C>G (p.Leu208Val)	ATG16L2, LOC130006363 (L208V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544599	NM_014824.3(FCHSD2):c.1576C>A (p.Gln526Lys)	ATG16L2, FCHSD2 (Q526K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463167	NM_014824.3(FCHSD2):c.1839T>A (p.Asn613Lys)	ATG16L2, FCHSD2 (N613K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459309	NM_014824.3(FCHSD2):c.2155C>G (p.Pro719Ala)	ATG16L2, FCHSD2 (P719A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379362	NM_014824.3(FCHSD2):c.2069A>T (p.His690Leu)	ATG16L2, FCHSD2 (H690L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311649	NM_033388.2(ATG16L2):c.22G>A (p.Gly8Ser)	ATG16L2, LOC130006361 (G8S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2251103	NM_033388.2(ATG16L2):c.748A>G (p.Arg250Gly)	ATG16L2, LOC130006364 (R144G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217348	NM_014824.3(FCHSD2):c.1675G>A (p.Val559Ile)	ATG16L2, FCHSD2 (V559I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205087	NM_014824.3(FCHSD2):c.2195T>C (p.Ile732Thr)	ATG16L2, FCHSD2 (I732T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787382	NM_014824.3(FCHSD2):c.1970C>T (p.Pro657Leu)	ATG16L2, FCHSD2 (P657L)	Single nucleotide variant (missense variant)	not provided	GBenign

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Links from Gene

Items: 20