15702[HGNC] - ClinVar

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Items: 36

	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 146298	GRCh38/hg38 6q25.1(chr6:149333404-149527861)x3	LOC126859827, LOC129997426 +9 more	Copy number gain	See cases	GUncertain significance
Select item 3309205	NM_139126.4(PPIL4):c.1427G>A (p.Arg476Gln)	PPIL4 (R476Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485540	NM_139126.4(PPIL4):c.1360A>G (p.Ser454Gly)	PPIL4 (S454G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512414	NM_139126.4(PPIL4):c.1336T>A (p.Ser446Thr)	PPIL4 (S446T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217222	NM_139126.4(PPIL4):c.1289A>T (p.Gln430Leu)	PPIL4 (Q430L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217221	NM_139126.4(PPIL4):c.1222A>G (p.Asn408Asp)	PPIL4 (N408D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309206	NM_139126.4(PPIL4):c.1153C>T (p.His385Tyr)	PPIL4 (H385Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217225	NM_139126.4(PPIL4):c.811G>A (p.Val271Ile)	PPIL4 (V271I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602985	NM_139126.4(PPIL4):c.739T>A (p.Leu247Met)	PPIL4 (L247M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472784	NM_139126.4(PPIL4):c.425C>A (p.Thr142Asn)	PPIL4 (T142N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551005	NM_139126.4(PPIL4):c.412A>G (p.Lys138Glu)	PPIL4 (K138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301823	NM_139126.4(PPIL4):c.371C>A (p.Thr124Lys)	PPIL4 (T124K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217223	NM_139126.4(PPIL4):c.154C>G (p.Gln52Glu)	PPIL4 (Q52E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380227	NM_139126.4(PPIL4):c.131A>G (p.Asn44Ser)	PPIL4 (N44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309207	NM_139126.4(PPIL4):c.112A>G (p.Asn38Asp)	PPIL4 (N38D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355042	NM_139126.4(PPIL4):c.74G>C (p.Cys25Ser)	PPIL4 (C25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510800	NM_139126.4(PPIL4):c.67C>A (p.Arg23Ser)	LOC129997432, PPIL4 (R23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217224	NM_139126.4(PPIL4):c.23C>T (p.Thr8Ile)	LOC129997432, PPIL4 (T8I)	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: 36