51660[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	LOC129997659, LOC129997660 +248 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +244 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +225 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +204 more	Copy number loss	See cases	GPathogenic
Select item 151592	GRCh38/hg38 6q27(chr6:165631374-166405780)x3	LINC00473, LINC00602 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1221336	NM_016098.4(MPC1):c.*238A>C	MPC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2237968	NM_016098.4(MPC1):c.320C>T (p.Ala107Val)	MPC1 (A107V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 744630	NM_016098.4(MPC1):c.318G>A (p.Thr106=)	MPC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 214658	NM_016098.4(MPC1):c.317C>T (p.Thr106Met)	MPC1 (T106M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 745683	NM_016098.4(MPC1):c.312T>A (p.Thr104=)	MPC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1529084	NM_016098.4(MPC1):c.306-9dup	MPC1	Duplication (intron variant)	not provided	GLikely benign
Select item 1241857	NM_016098.4(MPC1):c.306-93A>T	MPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1419967	NM_016098.4(MPC1):c.304G>A (p.Glu102Lys)	MPC1 (E59K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 138241	NM_016098.4(MPC1):c.303C>T (p.His101=)	MPC1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 974695	NM_016098.4(MPC1):c.301C>T (p.His101Tyr)	MPC1 (H101Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1236163	NM_016098.4(MPC1):c.290G>A (p.Arg97Gln)	MPC1 (R54Q +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial pyruvate carrier deficiency	GLikely pathogenic
Select item 35561	NM_016098.4(MPC1):c.289C>T (p.Arg97Trp)	MPC1 (R97W +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial pyruvate carrier deficiency	GPathogenic
Select item 2885654	NM_016098.4(MPC1):c.282G>A (p.Gln94=)	MPC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2627541	NM_016098.4(MPC1):c.274C>G (p.Leu92Val)	MPC1 (L49V +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial pyruvate carrier deficiency	GUncertain significance
Select item 3045109	NM_016098.4(MPC1):c.252C>T (p.His84=)	MPC1 (R68C)	Single nucleotide variant (synonymous variant +2 more)	MPC1-related disorder	GLikely benign
Select item 35562	NM_016098.4(MPC1):c.236T>A (p.Leu79His)	MPC1 (L79H +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial pyruvate carrier deficiency	GPathogenic
Select item 1380961	NM_016098.4(MPC1):c.227G>A (p.Arg76Gln)	MPC1 (R33Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1029576	NM_016098.4(MPC1):c.220C>A (p.Gln74Lys)	MPC1 (Q74K +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial pyruvate carrier deficiency	GUncertain significance
Select item 488547	NM_016098.4(MPC1):c.214A>G (p.Lys72Glu)	MPC1 (K72E +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial pyruvate carrier deficiency	GLikely pathogenic
Select item 1236162	NM_016098.4(MPC1):c.208G>A (p.Ala70Thr)	MPC1 (A27T +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial pyruvate carrier deficiency	GLikely pathogenic
Select item 3397575	NM_016098.4(MPC1):c.194C>T (p.Thr65Ile)	MPC1 (T22I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 722840	NM_016098.4(MPC1):c.174C>T (p.Ala58=)	MPC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2024760	NM_016098.4(MPC1):c.173-14G>A	MPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298151	NM_016098.4(MPC1):c.173-84A>G	MPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2195931	NM_016098.4(MPC1):c.172+9G>T	MPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913286	NM_016098.4(MPC1):c.160C>T (p.Arg54Trp)	MPC1 (R11W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1299296	NM_016098.4(MPC1):c.109C>T (p.Pro37Ser)	MPC1 (P37S)	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial pyruvate carrier deficiency	GLikely pathogenic
Select item 138240	NM_016098.4(MPC1):c.106C>A (p.Leu36Ile)	MPC1 (L36I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GBenign
Select item 650389	NM_016098.4(MPC1):c.76-2A>G	MPC1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1247260	NM_016098.4(MPC1):c.76-102C>T	MPC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1326591	NM_016098.4(MPC1):c.76-342G>A	MPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231288	NM_016098.4(MPC1):c.75+70G>T	MPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 58472	GRCh38/hg38 6q27(chr6:166370159-170602152)x1	AFDN, AFDN-DT +169 more	Copy number loss	See cases	GPathogenic
Select item 1427530	NM_016098.4(MPC1):c.74C>T (p.Thr25Met)	MPC1 (T25M)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1951574	NM_016098.4(MPC1):c.72-8C>T	MPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317402	NM_016098.4(MPC1):c.72-124G>C	MPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316799	NM_016098.4(MPC1):c.71+282C>A	MPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280995	NM_016098.4(MPC1):c.71+68C>T	MPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1528448	NM_016098.4(MPC1):c.71+17G>A	MPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2125142	NM_016098.4(MPC1):c.63C>G (p.Tyr21Ter)	MPC1 (Y21*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2501431	NM_016098.4(MPC1):c.50A>C (p.Asp17Ala)	MPC1 (D17A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3397573	NM_016098.4(MPC1):c.47A>G (p.Lys16Arg)	MPC1 (K16R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 378152	NM_016098.4(MPC1):c.30G>A (p.Ala10=)	MPC1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 2886487	NM_016098.4(MPC1):c.12G>A (p.Ala4=)	MPC1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1253538	NC_000006.12:g.166382945C>A	LOC129997661, MPC1	Single nucleotide variant	not provided	GBenign
Select item 669503	NM_016098.3(MPC1):c.-301G>A	LOC129997661, MPC1	Single nucleotide variant	not provided	GBenign
Select item 1237653	NC_000006.12:g.166383195C>T	LOC129997661, MPC1 +1 more	Single nucleotide variant	not provided	GBenign
Select item 682625	NM_016098.3(MPC1):c.-356A>G	MPC1, MPC1-DT +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 673173	NM_016098.3(MPC1):c.-457C>T	LOC129997661, MPC1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 682624	NM_016098.3(MPC1):c.-468G>C	LOC129997661, MPC1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 3391893	GRCh37/hg19 6q25.3-27(chr6:158471960-170919482)x1	ACAT2, AFDN +61 more	Copy number loss	not provided	GPathogenic
Select item 3391892	GRCh37/hg19 6q25.2-27(chr6:153777725-170919482)x1	ACAT2, AFDN +73 more	Copy number loss	not provided	GPathogenic
Select item 3391846	GRCh37/hg19 6q24.2-27(chr6:144561123-170919482)x3	ACAT2, ADGB +117 more	Copy number gain	not provided	GPathogenic
Select item 3246169	NC_000006.11:g.(?_166778917)_(167453466_?)dup	CEP43, MPC1 +2 more	Duplication	not provided	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	AFDN, C6orf118 +33 more	Copy number loss	not provided	GPathogenic
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 1807798	GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1	AFDN, C6orf118 +32 more	Copy number loss	not provided	GPathogenic
Select item 1711652	GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1	AFDN, RNASET2 +31 more	Copy number loss	not provided	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527324	GRCh37/hg19 6q27(chr6:165622608-166897295)	C6orf118, LOC729681 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527323	GRCh37/hg19 6q26-27(chr6:163290087-170919482)	AFDN, C6orf118 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527321	GRCh37/hg19 6q26-27(chr6:162381975-170919482)	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 1527320	GRCh37/hg19 6q26-27(chr6:162212864-170919482)	AFDN, C6orf118 +33 more	Copy number gain	not specified	GPathogenic
Select item 1527319	GRCh37/hg19 6q26-27(chr6:161047873-170919482)	AFDN, AGPAT4 +37 more	Copy number loss	not specified	GPathogenic
Select item 979597	GRCh37/hg19 6q27(chr6:166083476-170919482)x3	AFDN, C6orf120 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 814901	GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic
Select item 814897	GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1	GPR31, KIF25 +33 more	Copy number loss	not provided	GPathogenic
Select item 685707	GRCh37/hg19 6q27(chr6:166607593-170919482)x1	AFDN, C6orf120 +25 more	Copy number loss	not provided	GPathogenic
Select item 626287	Single allele	AFDN, C6orf118 +33 more	Deletion	not provided	GLikely pathogenic
Select item 625656	GRCh37/hg19 6q27(chr6:166517762-170919470)	AFDN, C6orf120 +26 more	Copy number loss	not provided	GPathogenic
Select item 563256	GRCh37/hg19 6q27(chr6:166686874-166891466)x3	RPS6KA2, MPC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563255	GRCh37/hg19 6q27(chr6:165190527-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	not provided	GPathogenic
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442494	GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 442252	GRCh37/hg19 6q27(chr6:166110423-170919482)x1	AFDN, C6orf120 +28 more	Copy number loss	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 394418	GRCh37/hg19 6q27(chr6:166571083-167265466)x1	MPC1, PRR18 +3 more	Copy number loss	See cases	GUncertain significance

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