GINM1[gene] - ClinVar

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Items: 37

	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 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 149317	GRCh38/hg38 6q24.3-25.1(chr6:147580351-150227963)x3	GINM1, KATNA1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 146082	GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1	GINM1, IYD +131 more	Copy number loss	See cases	GPathogenic
Select item 147845	GRCh38/hg38 6q24.3-25.1(chr6:148112335-149649984)x1	GINM1, KATNA1 +69 more	Copy number loss	See cases	GPathogenic
Select item 2524311	NM_138785.5(GINM1):c.7G>A (p.Gly3Ser)	GINM1, LOC129997435 (G3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616222	NM_138785.5(GINM1):c.110G>A (p.Gly37Glu)	GINM1, LOC129997435 (G37E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099855	NM_138785.5(GINM1):c.121G>A (p.Asp41Asn)	GINM1 (D41N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589056	NM_138785.5(GINM1):c.166A>G (p.Ile56Val)	GINM1 (I56V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2307810	NM_138785.5(GINM1):c.190A>G (p.Asn64Asp)	GINM1 (N64D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476621	NM_138785.5(GINM1):c.224A>G (p.Asn75Ser)	GINM1 (N75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244213	NM_138785.5(GINM1):c.262T>G (p.Cys88Gly)	GINM1 (C88G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362851	NM_138785.5(GINM1):c.325A>G (p.Ile109Val)	GINM1 (I109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099856	NM_138785.5(GINM1):c.355T>A (p.Trp119Arg)	GINM1 (W119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526223	NM_138785.5(GINM1):c.370G>C (p.Gly124Arg)	GINM1 (G124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471678	NM_138785.5(GINM1):c.445G>A (p.Val149Ile)	GINM1 (V149I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392239	NM_138785.5(GINM1):c.458A>T (p.Asp153Val)	GINM1 (D153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528941	NM_138785.5(GINM1):c.476G>A (p.Arg159Gln)	GINM1 (R159Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2205634	NM_138785.5(GINM1):c.500A>G (p.Tyr167Cys)	GINM1 (Y167C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099857	NM_138785.5(GINM1):c.523A>G (p.Met175Val)	GINM1 (M175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099858	NM_138785.5(GINM1):c.532T>C (p.Ser178Pro)	GINM1 (S178P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454358	NM_138785.5(GINM1):c.553A>G (p.Ile185Val)	GINM1 (I185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209927	NM_138785.5(GINM1):c.652G>A (p.Glu218Lys)	GINM1 (E218K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342978	NM_138785.5(GINM1):c.730T>G (p.Trp244Gly)	GINM1 (W244G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 638121	GRCh37/hg19 6q24.3-25.1(chr6:148690764-150494873)x1	GINM1, KATNA1 +17 more	Copy number loss	See cases	GPathogenic
Select item 563240	GRCh37/hg19 6q24.2-25.1(chr6:144947731-150266155)x1	ADGB, EPM2A +22 more	Copy number loss	not provided	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 442634	GRCh37/hg19 6q24.3-25.1(chr6:148364229-149928368)x1	GINM1, KATNA1 +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic

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Items: 37