ClinVar for Gene (Select 10797) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296638	NM_006636.4(MTHFD2):c.980C>G (p.Ala327Gly)	MTHFD2 (A327G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296637	NM_006636.4(MTHFD2):c.65C>T (p.Ser22Phe)	MTHFD2 (S22F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3296636	NM_006636.4(MTHFD2):c.515T>C (p.Met172Thr)	MTHFD2 (M172T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296635	NM_006636.4(MTHFD2):c.212G>C (p.Ser71Thr)	MTHFD2 (S71T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3296634	NM_006636.4(MTHFD2):c.229G>A (p.Glu77Lys)	MTHFD2 (E77K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3215266	NM_006636.4(MTHFD2):c.76C>T (p.Arg26Cys)	MTHFD2 (R26C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3215258	NM_006636.4(MTHFD2):c.74T>C (p.Leu25Pro)	MTHFD2 (L25P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3215255	NM_006636.4(MTHFD2):c.731C>A (p.Thr244Lys)	MTHFD2 (T244K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215245	NM_006636.4(MTHFD2):c.55C>T (p.His19Tyr)	MTHFD2 (H19Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3215232	NM_006636.4(MTHFD2):c.306T>G (p.Ile102Met)	MTHFD2 (I102M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3215229	NM_006636.4(MTHFD2):c.272C>T (p.Ala91Val)	MTHFD2 (A91V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2651062	NM_006636.4(MTHFD2):c.654G>A (p.Ala218=)	MTHFD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623029	NM_006636.4(MTHFD2):c.1039G>A (p.Val347Ile)	MTHFD2 (V347I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614627	NM_006636.4(MTHFD2):c.55C>A (p.His19Asn)	MTHFD2 (H19N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	CCDC142, DCTN1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2476149	NM_006636.4(MTHFD2):c.652G>A (p.Ala218Thr)	MTHFD2 (A116T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2335530	NM_006636.4(MTHFD2):c.994C>A (p.Leu332Met)	MTHFD2 (L332M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328420	NM_006636.4(MTHFD2):c.63C>G (p.Cys21Trp)	MTHFD2 (C21W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299360	NM_006636.4(MTHFD2):c.842A>G (p.Asp281Gly)	MTHFD2 (D281G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292081	NM_006636.4(MTHFD2):c.731C>T (p.Thr244Ile)	MTHFD2 (T142I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273450	NM_006636.4(MTHFD2):c.370G>A (p.Asp124Asn)	MTHFD2 (D22N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242928	NM_006636.4(MTHFD2):c.328G>A (p.Glu110Lys)	MTHFD2 (E8K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212770	NM_006636.4(MTHFD2):c.751A>G (p.Ile251Val)	MTHFD2 (I149V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 685166	GRCh37/hg19 2p13.1(chr2:74364945-74476818)x3	MOB1A, BOLA3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37