ClinVar for Gene (Select 9873) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3278365	NM_014824.3(FCHSD2):c.208C>T (p.Pro70Ser)	FCHSD2 (P70S)	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 3094137	NM_014824.3(FCHSD2):c.838G>A (p.Asp280Asn)	FCHSD2 (D280N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094136	NM_014824.3(FCHSD2):c.804G>T (p.Gln268His)	FCHSD2 (Q268H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094135	NM_014824.3(FCHSD2):c.619G>A (p.Ala207Thr)	FCHSD2 (A207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094134	NM_014824.3(FCHSD2):c.414A>T (p.Gln138His)	FCHSD2 (Q138H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094132	NM_014824.3(FCHSD2):c.248T>C (p.Met83Thr)	FCHSD2 (M83T)	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 3094129	NM_014824.3(FCHSD2):c.1369G>A (p.Asp457Asn)	FCHSD2 (D457N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094128	NM_014824.3(FCHSD2):c.1368C>A (p.Phe456Leu)	FCHSD2 (F456L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094127	NM_014824.3(FCHSD2):c.1358T>C (p.Met453Thr)	FCHSD2 (M453T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094126	NM_014824.3(FCHSD2):c.1324G>A (p.Glu442Lys)	FCHSD2 (E442K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094125	NM_014824.3(FCHSD2):c.1307C>T (p.Ser436Leu)	FCHSD2 (S436L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094124	NM_014824.3(FCHSD2):c.1148T>C (p.Ile383Thr)	FCHSD2 (I383T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094123	NM_014824.3(FCHSD2):c.1061G>T (p.Cys354Phe)	FCHSD2 (C354F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
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 2588405	NM_014824.3(FCHSD2):c.886C>T (p.Pro296Ser)	FCHSD2 (P296S)	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 2531855	NM_014824.3(FCHSD2):c.1069G>A (p.Ala357Thr)	FCHSD2 (A357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493812	NM_014824.3(FCHSD2):c.247A>T (p.Met83Leu)	FCHSD2 (M83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487288	NM_014824.3(FCHSD2):c.983C>T (p.Ala328Val)	FCHSD2 (A328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467341	NM_014824.3(FCHSD2):c.900G>C (p.Gln300His)	FCHSD2 (Q300H)	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 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2411132	NM_014824.3(FCHSD2):c.1228A>G (p.Met410Val)	FCHSD2 (M410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393787	NM_014824.3(FCHSD2):c.871G>A (p.Ala291Thr)	FCHSD2 (A291T)	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 2375919	NM_014824.3(FCHSD2):c.1262G>A (p.Arg421Gln)	FCHSD2 (R421Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368806	NM_014824.3(FCHSD2):c.1190A>G (p.Gln397Arg)	FCHSD2 (Q397R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357574	NM_014824.3(FCHSD2):c.1060T>G (p.Cys354Gly)	FCHSD2 (C354G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325699	NM_014824.3(FCHSD2):c.253C>T (p.Pro85Ser)	FCHSD2 (P85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316189	NM_014824.3(FCHSD2):c.760C>T (p.Arg254Trp)	FCHSD2 (R254W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282670	NM_014824.3(FCHSD2):c.1031A>G (p.His344Arg)	FCHSD2 (H344R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279691	NM_014824.3(FCHSD2):c.419A>C (p.Glu140Ala)	FCHSD2 (E140A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246356	NM_014824.3(FCHSD2):c.230G>A (p.Arg77Gln)	FCHSD2 (R77Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241546	NM_014824.3(FCHSD2):c.329A>G (p.Asn110Ser)	FCHSD2 (N110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240664	NM_014824.3(FCHSD2):c.1335A>C (p.Glu445Asp)	FCHSD2 (E445D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240663	NM_014824.3(FCHSD2):c.1334A>G (p.Glu445Gly)	FCHSD2 (E445G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228789	NM_014824.3(FCHSD2):c.647C>T (p.Ala216Val)	FCHSD2 (A216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222519	NM_014824.3(FCHSD2):c.1172G>A (p.Arg391Gln)	FCHSD2 (R391Q)	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 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 787382	NM_014824.3(FCHSD2):c.1970C>T (p.Pro657Leu)	ATG16L2, FCHSD2 (P657L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786201	NM_014824.3(FCHSD2):c.1152T>C (p.Ile384=)	FCHSD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710059	NM_014824.3(FCHSD2):c.385A>C (p.Arg129=)	FCHSD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685585	GRCh37/hg19 11q13.4(chr11:72588717-72751067)x1	FCHSD2	Copy number loss	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 61