ClinVar for Gene (Select 84908) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3091837	NM_001329752.2(FAM136A):c.30G>C (p.Gln10His)	FAM136A (Q10H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091836	NM_001329752.2(FAM136A):c.476A>G (p.Gln159Arg)	FAM136A (Q137R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091834	NM_001329752.2(FAM136A):c.461T>C (p.Met154Thr)	FAM136A (M132T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059710	NM_001329752.2(FAM136A):c.582C>T (p.Asn194=)	FAM136A	Single nucleotide variant (synonymous variant)	FAM136A-related disorder	GBenign
Select item 3059676	NM_001329752.2(FAM136A):c.408+7G>C	FAM136A	Single nucleotide variant (5 prime UTR variant +1 more)	FAM136A-related disorder	GBenign
Select item 3056074	NM_001329752.2(FAM136A):c.271C>T (p.Arg91Cys)	FAM136A (R91C)	Single nucleotide variant (missense variant +1 more)	FAM136A-related disorder	GBenign
Select item 3055771	NM_001329752.2(FAM136A):c.583G>C (p.Asp195His)	FAM136A (D173H +3 more)	Single nucleotide variant (missense variant)	FAM136A-related disorder	GBenign
Select item 3051952	NM_001329752.2(FAM136A):c.408+10C>T	FAM136A	Single nucleotide variant (5 prime UTR variant +1 more)	FAM136A-related disorder	GLikely benign
Select item 3049056	NM_001329752.2(FAM136A):c.161C>T (p.Ala54Val)	FAM136A (A54V)	Single nucleotide variant (missense variant +1 more)	FAM136A-related disorder	GBenign
Select item 3042819	NM_001329752.2(FAM136A):c.107A>C (p.Asn36Thr)	FAM136A (N36T)	Single nucleotide variant (missense variant +1 more)	FAM136A-related disorder	GBenign
Select item 3039497	NM_001329752.2(FAM136A):c.385C>G (p.Pro129Ala)	FAM136A (P129A)	Single nucleotide variant (missense variant +1 more)	FAM136A-related disorder	GLikely benign
Select item 3035381	NM_001329752.2(FAM136A):c.356G>C (p.Trp119Ser)	FAM136A (W119S)	Single nucleotide variant (missense variant +1 more)	FAM136A-related disorder	GBenign
Select item 3034539	NM_001329752.2(FAM136A):c.654G>A (p.Val218=)	FAM136A	Single nucleotide variant (synonymous variant)	FAM136A-related disorder	GLikely benign
Select item 3034119	NM_001329752.2(FAM136A):c.369C>A (p.Leu123=)	FAM136A	Single nucleotide variant (synonymous variant +1 more)	FAM136A-related disorder	GLikely benign
Select item 2651013	NM_001329752.2(FAM136A):c.644_647del (p.Asp215fs)	FAM136A (D108fs +3 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2587943	NM_001329752.2(FAM136A):c.464A>G (p.Lys155Arg)	FAM136A (K133R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537441	NM_001329752.2(FAM136A):c.19C>T (p.Leu7Phe)	FAM136A (L7F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2491189	NM_001329752.2(FAM136A):c.35C>T (p.Ala12Val)	FAM136A (A12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	DGUOK, EMX1 +72 more	Duplication	not provided	GUncertain significance
Select item 2383844	NM_001329752.2(FAM136A):c.523G>T (p.Val175Phe)	FAM136A (V153F +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2318049	NM_001329752.2(FAM136A):c.18G>C (p.Gln6His)	FAM136A (Q6H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313589	NM_001329752.2(FAM136A):c.430G>A (p.Ala144Thr)	FAM136A (A122T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879473	NM_001329752.2(FAM136A):c.554G>A (p.Arg185His)	FAM136A (R163H +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
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 1701380	NM_001329752.2(FAM136A):c.229C>G (p.Leu77Val)	FAM136A (L77V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 719332	NM_001329752.2(FAM136A):c.72C>T (p.Asn24=)	FAM136A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 562571	GRCh37/hg19 2p13.3(chr2:70338896-70664385)x3	FAM136A, PCYOX1 +3 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 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +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
Select item 140608	NM_001329752.2(FAM136A):c.547C>T (p.Gln183Ter)	FAM136A (Q76* +3 more)	Single nucleotide variant (nonsense)	Meniere disease	GPathogenic

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Links from Gene

Items: 37