ClinVar for Gene (Select 518) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3131712	NM_001689.5(ATP5MC3):c.83C>T (p.Ser28Leu)	ATP5MC3 (S28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131711	NM_001689.5(ATP5MC3):c.47C>T (p.Ala16Val)	ATP5MC3 (A16V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131710	NM_001689.5(ATP5MC3):c.31C>G (p.Pro11Ala)	ATP5MC3 (P11A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3131709	NM_001689.5(ATP5MC3):c.170A>G (p.Gln57Arg)	ATP5MC3 (Q57R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3131708	NM_001689.5(ATP5MC3):c.137A>G (p.Asn46Ser)	ATP5MC3 (N46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131707	NM_001689.5(ATP5MC3):c.128C>T (p.Thr43Met)	ATP5MC3 (T43M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131706	NM_001689.5(ATP5MC3):c.128C>A (p.Thr43Lys)	ATP5MC3 (T43K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651550	NM_001689.5(ATP5MC3):c.193A>G (p.Ile65Val)	ATP5MC3 (I65V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2528454	NM_001689.5(ATP5MC3):c.97C>G (p.Pro33Ala)	ATP5MC3 (P33A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507200	NM_001689.5(ATP5MC3):c.265G>C (p.Gly89Arg)	ATP5MC3 (G89R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500984	NM_001689.5(ATP5MC3):c.236G>T (p.Gly79Val)	ATP5MC3 (G79V)	Single nucleotide variant (missense variant)	Dystonia, early-onset, and/or spastic paraplegia	GPathogenic
Select item 2500983	NM_001689.5(ATP5MC3):c.319C>G (p.Pro107Ala)	ATP5MC3 (P107A)	Single nucleotide variant (missense variant +1 more)	Dystonia, early-onset, and/or spastic paraplegia	GPathogenic
Select item 2476407	NM_001689.5(ATP5MC3):c.161A>G (p.Gln54Arg)	ATP5MC3 (Q54R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1941038	NM_001689.5(ATP5MC3):c.37_38del (p.Leu13fs)	ATP5MC3 (L13fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1808725	GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1	AGPS, ATF2 +38 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 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339874	GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3	ATF2, ATP5MC3 +22 more	Copy number gain	not provided	Gnot provided
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	CYBRD1, DCAF17 +60 more	Copy number loss	3-4 finger syndactyly +1 more	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 976731	NM_001689.5(ATP5MC3):c.318C>G (p.Asn106Lys)	ATP5MC3 (N106K)	Single nucleotide variant (missense variant +1 more)	ATP5G3-associated disorder	GLikely pathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 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 726025	NM_001689.5(ATP5MC3):c.120+10G>A	ATP5MC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716298	NM_001689.5(ATP5MC3):c.57A>G (p.Arg19=)	ATP5MC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 562670	GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3	ATF2, ATP5MC3 +27 more	Copy number gain	not provided	GPathogenic
Select item 562664	GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)x1	AGPS, ATF2 +29 more	Copy number loss	not provided	GPathogenic
Select item 559376	NM_001689.5(ATP5MC3):c.348T>C (p.Tyr116=)	ATP5MC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 446338	GRCh37/hg19 2q31.1(chr2:175887486-176989647)x1	ATF2, ATP5MC3 +7 more	Copy number loss	See cases	GPathogenic
Select item 443305	GRCh37/hg19 2q31.1(chr2:174783555-176832848)x1	ATF2, ATP5MC3 +10 more	Copy number loss	See cases	GUncertain significance
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 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 253337	GRCh37/hg19 2q31.1(chr2:174586724-176423918)x1	ATF2, ATP5MC3 +9 more	Copy number loss	See cases	GLikely pathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 154811	GRCh38/hg38 2q31.1(chr2:173713838-175467462)x1	ATF2, ATP5MC3 +66 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 149687	GRCh38/hg38 2q31.1(chr2:173713838-175467462)x3	ATF2, ATP5MC3 +66 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 58768	GRCh38/hg38 2q31.1(chr2:173699279-175586070)x1	ATF2, ATP5MC3 +68 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	ATP5MC3, ATF2 +159 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 52