ClinVar for Gene (Select 4175) - ClinVar

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Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3124376	NM_005915.6(MCM6):c.752T>G (p.Val251Gly)	MCM6 (V251G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124375	NM_005915.6(MCM6):c.290T>A (p.Phe97Tyr)	MCM6 (F97Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124374	NM_005915.6(MCM6):c.2336G>A (p.Arg779Gln)	MCM6 (R779Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124373	NM_005915.6(MCM6):c.2332C>T (p.His778Tyr)	MCM6 (H778Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124372	NM_005915.6(MCM6):c.2021T>G (p.Met674Arg)	MCM6 (M674R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124371	NM_005915.6(MCM6):c.2021T>C (p.Met674Thr)	MCM6 (M674T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124370	NM_005915.6(MCM6):c.1898G>A (p.Arg633Gln)	MCM6 (R633Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124369	NM_005915.6(MCM6):c.1332T>G (p.Ile444Met)	MCM6 (I444M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124368	NM_005915.6(MCM6):c.11C>T (p.Ala4Val)	MCM6 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124367	NM_005915.6(MCM6):c.1135A>G (p.Thr379Ala)	MCM6 (T379A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062609	GRCh37/hg19 2q21.3-22.1(chr2:136445987-137460731)x3	CXCR4, DARS1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 3060539	NM_005915.6(MCM6):c.781+10C>T	MCM6	Single nucleotide variant (intron variant)	MCM6-related disorder	GBenign
Select item 3059975	NM_005915.6(MCM6):c.912G>A (p.Ala304=)	MCM6	Single nucleotide variant (synonymous variant)	MCM6-related disorder	GBenign
Select item 3058466	NM_005915.6(MCM6):c.2209+10_2209+11del	MCM6	Deletion (intron variant)	MCM6-related disorder	GLikely benign
Select item 3052346	NM_005915.6(MCM6):c.-8A>G	MCM6	Single nucleotide variant (5 prime UTR variant)	MCM6-related disorder	GBenign
Select item 3050713	NM_005915.6(MCM6):c.275G>A (p.Arg92Gln)	MCM6 (R92Q)	Single nucleotide variant (missense variant)	MCM6-related disorder	GLikely benign
Select item 3043994	NM_005915.6(MCM6):c.339A>T (p.Ala113=)	MCM6	Single nucleotide variant (synonymous variant)	MCM6-related disorder	GLikely benign
Select item 3041793	NM_005915.6(MCM6):c.407G>A (p.Arg136His)	MCM6 (R136H)	Single nucleotide variant (missense variant)	MCM6-related disorder	GLikely benign
Select item 3038474	NM_005915.6(MCM6):c.254+6G>A	MCM6	Single nucleotide variant (intron variant)	MCM6-related disorder	GLikely benign
Select item 3035394	NM_005915.6(MCM6):c.1230G>A (p.Glu410=)	MCM6	Single nucleotide variant (synonymous variant)	MCM6-related disorder	GLikely benign
Select item 3033745	NM_005915.6(MCM6):c.274C>T (p.Arg92Trp)	MCM6 (R92W)	Single nucleotide variant (missense variant)	MCM6-related disorder	GLikely benign
Select item 3033295	NM_005915.6(MCM6):c.1082A>G (p.Asn361Ser)	MCM6 (N361S)	Single nucleotide variant (missense variant)	MCM6-related disorder	GBenign
Select item 3029513	NM_005915.6(MCM6):c.144A>G (p.Gln48=)	MCM6	Single nucleotide variant (synonymous variant)	MCM6-related disorder	GLikely benign
Select item 2651381	NM_005915.6(MCM6):c.513G>A (p.Gln171=)	MCM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616064	NM_005915.6(MCM6):c.845G>A (p.Arg282Gln)	MCM6 (R282Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615634	NM_005915.6(MCM6):c.565A>G (p.Arg189Gly)	MCM6 (R189G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607030	NM_005915.6(MCM6):c.2423A>G (p.Asp808Gly)	MCM6 (D808G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601483	NM_005915.6(MCM6):c.916A>G (p.Thr306Ala)	MCM6 (T306A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591944	NM_005915.6(MCM6):c.638C>G (p.Ala213Gly)	MCM6 (A213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569715	NM_005915.6(MCM6):c.2215G>A (p.Asp739Asn)	MCM6 (D739N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511195	NM_005915.6(MCM6):c.250T>C (p.Tyr84His)	MCM6 (Y84H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488742	NM_005915.6(MCM6):c.689C>A (p.Ala230Asp)	MCM6 (A230D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479477	NM_005915.6(MCM6):c.1556A>C (p.Asn519Thr)	MCM6 (N519T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472447	NM_005915.6(MCM6):c.2344C>T (p.His782Tyr)	MCM6 (H782Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463465	NM_005915.6(MCM6):c.121G>A (p.Asp41Asn)	MCM6 (D41N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456175	NM_005915.6(MCM6):c.2200G>A (p.Val734Met)	MCM6 (V734M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2433677	NM_005915.6(MCM6):c.1855C>T (p.Arg619Ter)	MCM6 (R619*)	Single nucleotide variant (nonsense)	Nonpersistence of intestinal lactase	GUncertain significance
Select item 2433676	NM_005915.6(MCM6):c.1798C>T (p.His600Tyr)	MCM6 (H600Y)	Single nucleotide variant (missense variant)	Nonpersistence of intestinal lactase	GUncertain significance
Select item 2433675	NM_005915.6(MCM6):c.1366G>A (p.Val456Met)	MCM6 (V456M)	Single nucleotide variant (missense variant)	Nonpersistence of intestinal lactase	GUncertain significance
Select item 2424679	NC_000002.11:g.(?_135809878)_(136875630_?)del	CXCR4, DARS1 +7 more	Deletion	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2424395	NC_000002.11:g.(?_136545894)_(136875630_?)dup	CXCR4, DARS1 +2 more	Duplication	not provided	GUncertain significance
Select item 2393129	NM_005915.6(MCM6):c.542G>A (p.Arg181Gln)	MCM6 (R181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391628	NM_005915.6(MCM6):c.1483G>A (p.Ala495Thr)	MCM6 (A495T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379888	NM_005915.6(MCM6):c.1687A>G (p.Ile563Val)	MCM6 (I563V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377797	NM_005915.6(MCM6):c.911C>T (p.Ala304Val)	MCM6 (A304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351091	NM_005915.6(MCM6):c.16G>T (p.Ala6Ser)	MCM6 (A6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342221	NM_005915.6(MCM6):c.406C>T (p.Arg136Cys)	MCM6 (R136C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319143	NM_005915.6(MCM6):c.1700A>G (p.Tyr567Cys)	MCM6 (Y567C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298842	NM_005915.6(MCM6):c.1550A>G (p.Lys517Arg)	MCM6 (K517R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276174	NM_005915.6(MCM6):c.2276A>G (p.Glu759Gly)	MCM6 (E759G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260464	NM_005915.6(MCM6):c.314C>T (p.Pro105Leu)	MCM6 (P105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259607	NM_005915.6(MCM6):c.338C>T (p.Ala113Val)	MCM6 (A113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256727	NM_005915.6(MCM6):c.163C>A (p.Arg55Ser)	MCM6 (R55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241843	NM_005915.6(MCM6):c.187G>A (p.Val63Met)	MCM6 (V63M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237544	NM_005915.6(MCM6):c.1462G>A (p.Gly488Arg)	MCM6 (G488R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211829	NM_005915.6(MCM6):c.1994A>G (p.Asn665Ser)	MCM6 (N665S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211539	NM_005915.6(MCM6):c.1972C>T (p.Arg658Cys)	MCM6 (R658C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704643	NM_005915.6(MCM6):c.1917+323T>C	MCM6	Single nucleotide variant (intron variant)	Lactase persistence	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 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 1047890	GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	RIF1, RND3 +28 more	Copy number gain	Strabismus +2 more	GPathogenic
Select item 982112	NM_005915.6(MCM6):c.2428T>C (p.Tyr810His)	MCM6 (Y810H)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 783342	NM_005915.6(MCM6):c.255-3C>T	MCM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 781948	NM_005915.6(MCM6):c.2268C>T (p.Ile756=)	MCM6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712505	NM_005915.6(MCM6):c.9C>T (p.Leu3=)	MCM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 688634	GRCh37/hg19 2q21.3-22.1(chr2:135712129-137818795)x3	CCNT2, CXCR4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686222	GRCh37/hg19 2q21.2-22.1(chr2:133457177-138188195)x1	ACMSD, CCNT2 +14 more	Copy number loss	not provided	GPathogenic
Select item 587528	NM_005915.6(MCM6):c.1654A>G (p.Ile552Val)	MCM6 (I552V)	Single nucleotide variant (missense variant)	Nonpersistence of intestinal lactase	GUncertain significance
Select item 587497	NM_005915.6(MCM6):c.1402C>T (p.Arg468Trp)	MCM6 (R468W)	Single nucleotide variant (missense variant)	Nonpersistence of intestinal lactase +1 more	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 7689	NM_005915.6(MCM6):c.1917+329C>G	MCM6	Single nucleotide variant (intron variant)	Lactase persistence	Gassociation
Select item 7688	NM_005915.6(MCM6):c.1917+321T>G	MCM6	Single nucleotide variant (intron variant)	Lactase persistence	Gassociation
Select item 7687	NM_005915.6(MCM6):c.1917+226G>C	MCM6	Single nucleotide variant (intron variant)	Lactase persistence	Gassociation
Select item 7686	NM_005915.6(MCM6):c.1362+117G>A	MCM6	Single nucleotide variant (intron variant)	Lactase persistence	Gassociation
Select item 7685	NM_002299.2(LCT):c.-13907C>T	LCT, MCM6	Single nucleotide variant (intron variant)	Lactase persistence	Gassociation

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Links from Gene

Items: 83