ClinVar for Gene (Select 130752) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293816	NM_001039845.3(MDH1B):c.823A>G (p.Ile275Val)	MDH1B (I177V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293815	NM_001039845.3(MDH1B):c.158A>G (p.Glu53Gly)	MDH1B (E53G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3293814	NM_001039845.3(MDH1B):c.299C>T (p.Thr100Met)	MDH1B (T100M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3293813	NM_001039845.3(MDH1B):c.604G>A (p.Glu202Lys)	MDH1B (E104K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124597	NM_001039845.3(MDH1B):c.749C>T (p.Ser250Phe)	MDH1B (S152F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124596	NM_001039845.3(MDH1B):c.233T>A (p.Leu78His)	MDH1B (L78H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124595	NM_001039845.3(MDH1B):c.1399T>C (p.Tyr467His)	MDH1B (Y309H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124594	NM_001039845.3(MDH1B):c.1186G>C (p.Glu396Gln)	MDH1B (E238Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124593	NM_001039845.3(MDH1B):c.1078G>T (p.Ala360Ser)	MDH1B (A202S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124592	NM_001039845.3(MDH1B):c.1028C>T (p.Pro343Leu)	MDH1B (P185L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124591	NM_001039845.3(MDH1B):c.1007G>T (p.Gly336Val)	MDH1B (G238V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 2651845	NM_001039845.3(MDH1B):c.257T>C (p.Leu86Pro)	MDH1B (L86P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2651844	NM_001039845.3(MDH1B):c.1233G>A (p.Pro411=)	MDH1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2615314	NM_001039845.3(MDH1B):c.8A>G (p.Lys3Arg)	MDH1B (K3R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2603577	NM_001039845.3(MDH1B):c.779T>A (p.Phe260Tyr)	MDH1B (F162Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598847	NM_001039845.3(MDH1B):c.1467G>T (p.Glu489Asp)	MDH1B (E390D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2569693	NM_001039845.3(MDH1B):c.515A>G (p.Gln172Arg)	MDH1B (Q172R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560983	NM_001039845.3(MDH1B):c.763G>A (p.Val255Met)	MDH1B (V97M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552828	NM_001039845.3(MDH1B):c.712C>G (p.Leu238Val)	MDH1B (L80V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538180	NM_001039845.3(MDH1B):c.920A>G (p.Asp307Gly)	MDH1B (D209G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520693	NM_001039845.3(MDH1B):c.617G>A (p.Arg206His)	MDH1B (R48H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508319	NM_001039845.3(MDH1B):c.628G>A (p.Val210Ile)	MDH1B (V112I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487016	NM_001039845.3(MDH1B):c.595A>G (p.Thr199Ala)	MDH1B (T101A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487015	NM_001039845.3(MDH1B):c.510C>A (p.Asn170Lys)	MDH1B (N170K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483448	NM_001039845.3(MDH1B):c.1313T>G (p.Ile438Arg)	MDH1B (I340R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465509	NM_001039845.3(MDH1B):c.194T>A (p.Ile65Asn)	MDH1B (I65N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464125	NM_001039845.3(MDH1B):c.578G>A (p.Arg193His)	MDH1B (R95H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456240	NM_001039845.3(MDH1B):c.815C>T (p.Ala272Val)	MDH1B (A174V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455725	NM_001039845.3(MDH1B):c.848C>T (p.Ala283Val)	MDH1B (A185V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396330	NM_001039845.3(MDH1B):c.851T>G (p.Leu284Arg)	MDH1B (L126R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390526	NM_001039845.3(MDH1B):c.97C>T (p.Arg33Trp)	MDH1B (R33W)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2388817	NM_001039845.3(MDH1B):c.214C>T (p.Arg72Cys)	MDH1B (R72C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2380052	NM_001039845.3(MDH1B):c.703C>T (p.Leu235Phe)	MDH1B (L137F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377751	NM_001039845.3(MDH1B):c.851T>C (p.Leu284Pro)	MDH1B (L284P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343263	NM_001039845.3(MDH1B):c.958G>T (p.Val320Phe)	MDH1B (V320F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341979	NM_001039845.3(MDH1B):c.104A>G (p.His35Arg)	MDH1B (H35R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2337248	NM_001039845.3(MDH1B):c.532A>G (p.Lys178Glu)	MDH1B (K80E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301941	NM_001039845.3(MDH1B):c.577C>T (p.Arg193Cys)	MDH1B (R193C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	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 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ABI2, ACADL +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 988910	GRCh37/hg19 2q33.2-33.3(chr2:204312776-208235204)x3	CD28, CMKLR2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
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 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59163	GRCh38/hg38 2q33.3(chr2:206391900-207078994)x3	ADAM23, CPO +17 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 65