21568[HGNC] - ClinVar

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Items: 50

	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 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	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 58441	GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1	CALHM4, CALHM5 +64 more	Copy number loss	See cases	GPathogenic
Select item 146318	GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	CALHM4, CALHM5 +91 more	Copy number loss	See cases	GLikely pathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 2614605	NM_153711.5(CALHM5):c.181G>C (p.Val61Leu)	CALHM5, TRAPPC3L (V61L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136716	NM_153711.5(CALHM5):c.188T>C (p.Leu63Pro)	CALHM5, TRAPPC3L (L63P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482980	NM_153711.5(CALHM5):c.194T>C (p.Leu65Pro)	CALHM5, TRAPPC3L (L65P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3136717	NM_153711.5(CALHM5):c.270A>T (p.Arg90Ser)	CALHM5, TRAPPC3L (R90S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136718	NM_153711.5(CALHM5):c.310A>G (p.Thr104Ala)	CALHM5, TRAPPC3L (T104A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136719	NM_153711.5(CALHM5):c.343C>G (p.Leu115Val)	CALHM5, TRAPPC3L (L115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136720	NM_153711.5(CALHM5):c.387G>A (p.Met129Ile)	CALHM5, TRAPPC3L (M129I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136721	NM_153711.5(CALHM5):c.473G>A (p.Cys158Tyr)	CALHM5, TRAPPC3L (C158Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262976	NM_153711.5(CALHM5):c.476G>A (p.Gly159Asp)	CALHM5, TRAPPC3L (G159D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136722	NM_153711.5(CALHM5):c.512T>C (p.Leu171Pro)	CALHM5, TRAPPC3L (L171P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136723	NM_153711.5(CALHM5):c.530C>T (p.Ala177Val)	CALHM5, TRAPPC3L (A177V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136724	NM_153711.5(CALHM5):c.557T>C (p.Leu186Pro)	CALHM5, TRAPPC3L (L186P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136725	NM_153711.5(CALHM5):c.569C>T (p.Ala190Val)	CALHM5, TRAPPC3L (A190V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136726	NM_153711.5(CALHM5):c.572C>G (p.Ser191Cys)	CALHM5, TRAPPC3L (S191C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136727	NM_153711.5(CALHM5):c.604C>T (p.Arg202Cys)	CALHM5, TRAPPC3L (R202C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136728	NM_153711.5(CALHM5):c.644G>C (p.Trp215Ser)	CALHM5, TRAPPC3L (W215S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136729	NM_153711.5(CALHM5):c.773C>T (p.Thr258Met)	CALHM5, TRAPPC3L (T258M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262977	NM_153711.5(CALHM5):c.854T>G (p.Val285Gly)	CALHM5, TRAPPC3L (V285G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469904	NM_153711.5(CALHM5):c.860A>G (p.Asn287Ser)	CALHM5, TRAPPC3L (N287S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136730	NM_153711.5(CALHM5):c.866T>C (p.Leu289Pro)	CALHM5, TRAPPC3L (L289P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	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 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 2427242	NC_000006.11:g.(?_116441236)_(119252888_?)del	ASF1A, CALHM4 +24 more	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 1808570	GRCh37/hg19 6q22.1(chr6:116787149-116953270)x1	CALHM4, CALHM5 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527278	GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708)	DCBLD1, DSE +26 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 978186	NC_000006.11:g.116734559_123648104del	ASF1A, CALHM4 +31 more	Deletion	Seizure +1 more	GPathogenic
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 563224	GRCh37/hg19 6q22.1(chr6:116656963-116903944)x3	CALHM4, CALHM5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 563222	GRCh37/hg19 6q21-22.1(chr6:113261042-117842826)x1	CALHM4, CALHM5 +21 more	Copy number loss	not provided	GPathogenic
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 425540	GRCh37/hg19 6q21-22.1(chr6:114318401-116957002)x3	FRK, HS3ST5 +12 more	Copy number gain	not provided	GUncertain significance
Select item 217142	GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	NT5DC1, TRAPPC3L +36 more	Copy number loss	6q21-6q22.1 deletion	GLikely pathogenic
Select item 180227	NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del	ASF1A, CALHM4 +22 more	Deletion	Tremor +3 more	GPathogenic
Select item 180224	NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del	KPNA5, LAMA4 +25 more	Deletion	Delayed speech and language development +2 more	GPathogenic

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Items: 50