ClinVar for Gene (Select 51001) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296584	NM_015942.5(MTERF3):c.863C>G (p.Thr288Ser)	MTERF3 (T98S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296583	NM_015942.5(MTERF3):c.832G>C (p.Asp278His)	MTERF3 (D88H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296582	NM_015942.5(MTERF3):c.332A>G (p.Glu111Gly)	MTERF3 (E111G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214420	NM_015942.5(MTERF3):c.436C>T (p.Leu146Phe)	MTERF3 (L146F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214408	NM_015942.5(MTERF3):c.22A>G (p.Ile8Val)	MTERF3 (I8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214404	NM_015942.5(MTERF3):c.170G>C (p.Gly57Ala)	MTERF3 (G57A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2615037	NM_015942.5(MTERF3):c.1192T>C (p.Phe398Leu)	MTERF3 (F208L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2591955	NM_015942.5(MTERF3):c.464C>G (p.Thr155Ser)	MTERF3 (T155S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521190	NM_015942.5(MTERF3):c.845G>A (p.Arg282His)	MTERF3 (R92H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511799	NM_015942.5(MTERF3):c.637C>G (p.His213Asp)	MTERF3 (H23D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 2489818	NM_015942.5(MTERF3):c.779A>T (p.Asn260Ile)	MTERF3 (N70I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478270	NM_015942.5(MTERF3):c.328C>A (p.Leu110Ile)	MTERF3 (L110I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461224	NM_015942.5(MTERF3):c.181T>C (p.Tyr61His)	MTERF3 (Y61H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425970	NC_000008.10:g.(?_97156791)_(97345794_?)dup	GDF6, MTERF3 +2 more	Duplication	not provided	GUncertain significance
Select item 2423451	NC_000008.10:g.(?_96037237)_(97345794_?)dup	CFAP418, GDF6 +5 more	Duplication	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2409925	NM_015942.5(MTERF3):c.119G>T (p.Gly40Val)	MTERF3 (G40V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370217	NM_015942.5(MTERF3):c.485T>C (p.Leu162Pro)	MTERF3 (L162P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360933	NM_015942.5(MTERF3):c.998C>T (p.Thr333Met)	MTERF3 (T333M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358561	NM_015942.5(MTERF3):c.24A>G (p.Ile8Met)	MTERF3 (I8M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348267	NM_015942.5(MTERF3):c.943A>G (p.Met315Val)	MTERF3 (M125V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292507	NM_015942.5(MTERF3):c.74A>G (p.Gln25Arg)	MTERF3 (Q25R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291038	NM_015942.5(MTERF3):c.493G>T (p.Asp165Tyr)	MTERF3 (D165Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251938	NM_015942.5(MTERF3):c.994G>A (p.Glu332Lys)	MTERF3 (E142K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217448	NM_015942.5(MTERF3):c.293C>T (p.Thr98Ile)	MTERF3 (T98I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215871	NM_015942.5(MTERF3):c.892A>G (p.Met298Val)	MTERF3 (M298V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1292007	NC_000008.11:g.96261601C>G	MTERF3, PTDSS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 979843	GRCh37/hg19 8q22.1(chr8:95803280-97802022)x3	CFAP418, CCNE2 +11 more	Copy number gain	not provided	GLikely pathogenic
Select item 815145	GRCh37/hg19 8q22.1(chr8:96646399-98973327)x3	SDC2, CPQ +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 666435	GRCh37/hg19 8q22.1(chr8:97154645-98155535)x3	CPQ, GDF6 +4 more	Copy number gain	Leri pleonosteosis	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563528	GRCh37/hg19 8q22.1(chr8:96468763-98522743)x1	SDC2, UQCRB +5 more	Copy number loss	not provided	GUncertain significance
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 60388	GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1	CPQ, GDF6 +22 more	Copy number loss	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CPQ, DPY19L4 +139 more	Copy number loss	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 65