23034[HGNC] - ClinVar

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Items: 64

	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 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 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 151018	GRCh38/hg38 6q25.2(chr6:153921611-154560027)x3	CNKSR3, IPCEF1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	ARID1B, CLDN20 +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 154813	GRCh38/hg38 6q25.2(chr6:154345608-154588138)x3	CNKSR3, IPCEF1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 2482694	NM_173515.4(CNKSR3):c.1583C>T (p.Ser528Phe)	CNKSR3 (S353F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617348	NM_173515.4(CNKSR3):c.1550T>A (p.Ile517Asn)	CNKSR3 (F488I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238535	NM_173515.4(CNKSR3):c.1487G>A (p.Gly496Asp)	CNKSR3 (G321D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489617	NM_173515.4(CNKSR3):c.1475A>T (p.His492Leu)	CNKSR3 (H412L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146494	NM_173515.4(CNKSR3):c.1448G>C (p.Arg483Pro)	CNKSR3 (R403P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146493	NM_173515.4(CNKSR3):c.1415C>T (p.Pro472Leu)	CNKSR3 (P297L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256639	NM_173515.4(CNKSR3):c.1411C>T (p.Pro471Ser)	CNKSR3 (P471S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146492	NM_173515.4(CNKSR3):c.1401C>G (p.Asn467Lys)	CNKSR3 (N387K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621706	NM_173515.4(CNKSR3):c.1355G>A (p.Gly452Asp)	CNKSR3 (G277D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355569	NM_173515.4(CNKSR3):c.1343C>T (p.Ala448Val)	CNKSR3 (A273V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350815	NM_173515.4(CNKSR3):c.1280G>A (p.Gly427Asp)	CNKSR3 (G252D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389770	NM_173515.4(CNKSR3):c.1151C>G (p.Pro384Arg)	CNKSR3 (P304R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146491	NM_173515.4(CNKSR3):c.1138G>A (p.Gly380Ser)	CNKSR3 (G300S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489523	NM_173515.4(CNKSR3):c.1088T>C (p.Phe363Ser)	CNKSR3 (F283S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268147	NM_173515.4(CNKSR3):c.1069C>T (p.Arg357Trp)	CNKSR3 (R182W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219889	NM_173515.4(CNKSR3):c.1023C>G (p.Ile341Met)	CNKSR3 (I166M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402682	NM_173515.4(CNKSR3):c.962C>T (p.Ala321Val)	CNKSR3 (A146V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386714	NM_173515.4(CNKSR3):c.874C>T (p.Arg292Cys)	CNKSR3 (R298C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146501	NM_173515.4(CNKSR3):c.854T>C (p.Val285Ala)	CNKSR3 (V110A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268149	NM_173515.4(CNKSR3):c.673A>G (p.Met225Val)	CNKSR3 (M231V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146500	NM_173515.4(CNKSR3):c.586C>G (p.Arg196Gly)	CNKSR3 (R196G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489959	NM_173515.4(CNKSR3):c.568A>C (p.Ile190Leu)	CNKSR3 (I190L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397382	NM_173515.4(CNKSR3):c.521C>T (p.Ala174Val)	CNKSR3 (A174V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657043	NM_173515.4(CNKSR3):c.507G>A (p.Lys169=)	CNKSR3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2258994	NM_173515.4(CNKSR3):c.494C>T (p.Thr165Ile)	CNKSR3 (T171I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227989	NM_173515.4(CNKSR3):c.439A>G (p.Thr147Ala)	CNKSR3 (T147A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390865	NM_173515.4(CNKSR3):c.424C>T (p.Pro142Ser)	CNKSR3 (P148S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268889	NM_173515.4(CNKSR3):c.391G>A (p.Ala131Thr)	CNKSR3 (A51T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782482	NM_173515.4(CNKSR3):c.375G>T (p.Val125=)	CNKSR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3146499	NM_173515.4(CNKSR3):c.374T>C (p.Val125Ala)	CNKSR3 (V131A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268146	NM_173515.4(CNKSR3):c.319G>A (p.Ala107Thr)	CNKSR3 (A107T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146498	NM_173515.4(CNKSR3):c.308G>A (p.Arg103Gln)	CNKSR3 (R103Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146497	NM_173515.4(CNKSR3):c.305G>A (p.Arg102Gln)	CNKSR3 (R102Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268148	NM_173515.4(CNKSR3):c.295A>G (p.Ile99Val)	CNKSR3 (I19V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146496	NM_173515.4(CNKSR3):c.221A>G (p.Tyr74Cys)	CNKSR3 (Y80C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773204	NM_173515.4(CNKSR3):c.213A>T (p.Ala71=)	CNKSR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2295620	NM_173515.4(CNKSR3):c.164G>A (p.Arg55Gln)	CNKSR3 (R55Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460936	NM_173515.4(CNKSR3):c.95G>A (p.Arg32Gln)	CNKSR3 (R32Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1527309	GRCh37/hg19 6q25.2-25.3(chr6:153647248-158255989)	ARID1B, CLDN20 +10 more	Copy number loss	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 1340803	GRCh37/hg19 6q25.2-25.3(chr6:153584880-157203309)x1	ARID1B, CLDN20 +7 more	Copy number loss	not provided	GPathogenic
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 814883	GRCh37/hg19 6q25.2(chr6:154240326-154902834)x3	OPRM1, IPCEF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687133	GRCh37/hg19 6q25.2-25.3(chr6:154648703-156904256)x1	CLDN20, CNKSR3 +5 more	Copy number loss	not provided	GUncertain significance
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

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Items: 64