LOC130000338[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	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
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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 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 153587	GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3	ALKAL1, CEBPD +90 more	Copy number gain	See cases	GUncertain significance
Select item 151140	GRCh38/hg38 8q11.21(chr8:47831768-48178799)x1	LOC106903146, LOC129389984 +12 more	Copy number loss	See cases	GUncertain significance
Select item 363209	NM_182746.3(MCM4):c.-48G>T	LOC130000338, MCM4	Single nucleotide variant (5 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 911894	NM_182746.3(MCM4):c.-33A>G	MCM4, LOC130000338	Single nucleotide variant (5 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GUncertain significance
Select item 911895	NM_182746.3(MCM4):c.-15+55C>T	MCM4, LOC130000338	Single nucleotide variant (5 prime UTR variant +1 more)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363210	NM_182746.3(MCM4):c.-14-50G>A	MCM4, LOC130000338	Single nucleotide variant (intron variant +1 more)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363211	NM_182746.3(MCM4):c.-14-41C>T	LOC130000338, MCM4	Single nucleotide variant (5 prime UTR variant +1 more)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GBenign
Select item 908950	NM_182746.3(MCM4):c.-14-39G>A	LOC130000338, MCM4	Single nucleotide variant (5 prime UTR variant +1 more)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 1425380	NM_182746.3(MCM4):c.-14-3_70+1del	LOC130000338, MCM4	Deletion (splice donor variant +2 more)	not provided	GUncertain significance
Select item 376841	NM_182746.3(MCM4):c.5C>G (p.Ser2Trp)	LOC130000338, MCM4 (S2W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831022	NM_182746.3(MCM4):c.10C>G (p.Pro4Ala)	LOC130000338, MCM4 (P4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902837	NM_182746.3(MCM4):c.25A>C (p.Ser9Arg)	LOC130000338, MCM4 (S9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362979	NM_182746.3(MCM4):c.29G>T (p.Arg10Leu)	LOC130000338, MCM4 (R10L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416681	NM_182746.3(MCM4):c.31C>T (p.Arg11Cys)	LOC130000338, MCM4 (R11C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 626134	NM_182746.3(MCM4):c.31C>G (p.Arg11Gly)	LOC130000338, MCM4 (R11G)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1547581	NM_182746.3(MCM4):c.33C>T (p.Arg11=)	MCM4, LOC130000338	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3124353	NM_182746.3(MCM4):c.38G>T (p.Ser13Ile)	LOC130000338, MCM4 (S13I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2873575	NM_182746.3(MCM4):c.48A>G (p.Gly16=)	LOC130000338, MCM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018534	NM_182746.3(MCM4):c.51G>A (p.Arg17=)	LOC130000338, MCM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1713672	NM_182746.3(MCM4):c.55A>C (p.Thr19Pro)	LOC130000338, MCM4 (T19P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796673	NM_182746.3(MCM4):c.60C>T (p.Pro20=)	LOC130000338, MCM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1365753	NM_182746.3(MCM4):c.61G>A (p.Ala21Thr)	LOC130000338, MCM4 (A21T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2305556	NM_182746.3(MCM4):c.67A>C (p.Thr23Pro)	LOC130000338, MCM4 (T23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2133352	NM_182746.3(MCM4):c.68C>T (p.Thr23Met)	LOC130000338, MCM4 (T23M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1644919	NM_182746.3(MCM4):c.70+11C>T	LOC130000338, MCM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1593658	NM_182746.3(MCM4):c.70+12G>C	MCM4, LOC130000338	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769663	NM_182746.3(MCM4):c.70+14G>A	LOC130000338, MCM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940344	NM_182746.3(MCM4):c.70+18G>A	LOC130000338, MCM4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 40