21075[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 154269	GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1	AKAP7, ARG1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 155166	GRCh38/hg38 6q23.1(chr6:130040763-130549075)x3	L3MBTL3, LOC126859785 +13 more	Copy number gain	See cases	GUncertain significance
Select item 147459	GRCh38/hg38 6q23.1(chr6:130169549-130850911)x3	EPB41L2, LOC121132707 +18 more	Copy number gain	See cases	GUncertain significance
Select item 2546941	NM_001258277.2(TMEM200A):c.55T>C (p.Ser19Pro)	TMEM200A (S19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179094	NM_001258277.2(TMEM200A):c.172T>C (p.Tyr58His)	TMEM200A (Y58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235901	NM_001258277.2(TMEM200A):c.192T>A (p.Phe64Leu)	TMEM200A (F64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624375	NM_001258277.2(TMEM200A):c.528G>C (p.Lys176Asn)	TMEM200A (K176N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328522	NM_001258277.2(TMEM200A):c.571G>A (p.Glu191Lys)	TMEM200A (E191K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390911	NM_001258277.2(TMEM200A):c.626C>G (p.Thr209Arg)	TMEM200A (T209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326918	NM_001258277.2(TMEM200A):c.629T>C (p.Ile210Thr)	TMEM200A (I210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179095	NM_001258277.2(TMEM200A):c.662G>T (p.Arg221Leu)	TMEM200A (R221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349768	NM_001258277.2(TMEM200A):c.691C>T (p.Leu231Phe)	TMEM200A (L231F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397733	NM_001258277.2(TMEM200A):c.715T>A (p.Ser239Thr)	TMEM200A (S239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395544	NM_001258277.2(TMEM200A):c.721C>T (p.His241Tyr)	TMEM200A (H241Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525854	NM_001258277.2(TMEM200A):c.730C>T (p.Pro244Ser)	TMEM200A (P244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360569	NM_001258277.2(TMEM200A):c.811G>A (p.Gly271Ser)	TMEM200A (G271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593612	NM_001258277.2(TMEM200A):c.815C>G (p.Ser272Cys)	TMEM200A (S272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513987	NM_001258277.2(TMEM200A):c.914T>C (p.Ile305Thr)	TMEM200A (I305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289284	NM_001258277.2(TMEM200A):c.925A>G (p.Thr309Ala)	TMEM200A (T309A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366054	NM_001258277.2(TMEM200A):c.955T>A (p.Ser319Thr)	TMEM200A (S319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477021	NM_001258277.2(TMEM200A):c.980T>C (p.Leu327Pro)	TMEM200A (L327P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386428	NM_001258277.2(TMEM200A):c.1021G>A (p.Val341Ile)	TMEM200A (V341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231261	NM_001258277.2(TMEM200A):c.1074G>T (p.Gln358His)	TMEM200A (Q358H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248329	NM_001258277.2(TMEM200A):c.1127G>C (p.Gly376Ala)	TMEM200A (G376A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210616	NM_001258277.2(TMEM200A):c.1151C>A (p.Ser384Tyr)	TMEM200A (S384Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179093	NM_001258277.2(TMEM200A):c.1205G>A (p.Arg402Gln)	TMEM200A (R402Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407499	NM_001258277.2(TMEM200A):c.1349T>A (p.Ile450Asn)	TMEM200A (I450N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326916	NM_001258277.2(TMEM200A):c.1367A>G (p.Asn456Ser)	TMEM200A (N456S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326917	NM_001258277.2(TMEM200A):c.1450A>T (p.Arg484Trp)	TMEM200A (R484W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242313	GRCh37/hg19 6q22.33-23.2(chr6:129969121-132499298)x1	AKAP7, ARG1 +13 more	Copy number loss	not provided	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 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685215	GRCh37/hg19 6q23.1(chr6:130662934-130872608)x1	SAMD3, TMEM200A	Copy number loss	not provided	GUncertain significance
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 625707	GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991)	ARG1, AKAP7 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic

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Items: 44