13584[HGNC] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 538429	NC_000006.12:g.(?_152122416)_(153426916_?)del	SYNE1, SYNE1-AS1 +31 more	Deletion	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	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 2603047	NM_012177.5(FBXO5):c.1334G>A (p.Arg445Gln)	FBXO5 (R399Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3093789	NM_012177.5(FBXO5):c.1294G>C (p.Gly432Arg)	FBXO5 (G386R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219404	NM_012177.5(FBXO5):c.1279G>A (p.Ala427Thr)	FBXO5 (A381T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336939	NM_012177.5(FBXO5):c.1247C>T (p.Thr416Ile)	FBXO5 (T370I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595635	NM_012177.5(FBXO5):c.1127A>G (p.Lys376Arg)	FBXO5 (K330R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545792	NM_012177.5(FBXO5):c.1073G>A (p.Arg358Gln)	FBXO5 (R358Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278206	NM_012177.5(FBXO5):c.931C>T (p.Pro311Ser)	FBXO5 (P311S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093798	NM_012177.5(FBXO5):c.904G>C (p.Val302Leu)	FBXO5 (V302L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093797	NM_012177.5(FBXO5):c.845A>G (p.Lys282Arg)	FBXO5 (K282R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403239	NM_012177.5(FBXO5):c.808G>T (p.Asp270Tyr)	FBXO5 (D224Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330226	NM_012177.5(FBXO5):c.770A>G (p.His257Arg)	FBXO5 (H257R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528626	NM_012177.5(FBXO5):c.632G>A (p.Arg211Gln)	FBXO5 (R165Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318435	NM_012177.5(FBXO5):c.605G>C (p.Cys202Ser)	FBXO5 (C202S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093794	NM_012177.5(FBXO5):c.559C>T (p.Pro187Ser)	FBXO5 (P187S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093793	NM_012177.5(FBXO5):c.499G>A (p.Glu167Lys)	FBXO5 (E121K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297589	NM_012177.5(FBXO5):c.412A>G (p.Thr138Ala)	FBXO5 (T138A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278208	NM_012177.5(FBXO5):c.347A>G (p.His116Arg)	FBXO5 (H116R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357301	NM_012177.5(FBXO5):c.296C>T (p.Pro99Leu)	FBXO5 (P53L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093792	NM_012177.5(FBXO5):c.164A>G (p.His55Arg)	FBXO5 (H55R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093790	NM_012177.5(FBXO5):c.131C>T (p.Ser44Phe)	FBXO5 (S44F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3093796	NM_012177.5(FBXO5):c.70G>T (p.Val24Leu)	FBXO5 (V24L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3093795	NM_012177.5(FBXO5):c.68C>T (p.Ala23Val)	FBXO5 (A23V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403649	NM_012177.5(FBXO5):c.64A>G (p.Ser22Gly)	FBXO5 (S22G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480710	NM_012177.5(FBXO5):c.59G>A (p.Ser20Asn)	FBXO5 (S20N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093791	NM_012177.5(FBXO5):c.14C>T (p.Pro5Leu)	FBXO5 (P5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246023	NC_000006.11:g.(?_152949380)_(154441965_?)del	MTRF1L, FBXO5 +5 more	Deletion	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527307	GRCh37/hg19 6q25.2-25.3(chr6:153180239-156377315)	CLDN20, CNKSR3 +9 more	Copy number loss	not specified	GUncertain significance
Select item 979577	GRCh37/hg19 6q25.1-25.2(chr6:151472860-154839846)x3	MTRF1L, AKAP12 +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 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 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 254020	GRCh37/hg19 6q25.2(chr6:152702696-153345479)x4	SYNE1-AS1, FBXO5 +5 more	Copy number gain	See cases	GUncertain significance

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Items: 48