21397[HGNC] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +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 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 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 146034	GRCh38/hg38 6q21(chr6:107010730-108039165)x3	BEND3, LOC123775394 +24 more	Copy number gain	See cases	GUncertain significance
Select item 560095	NC_000006.12:g.107174371_107825273del	LOC123775394, LOC129389601 +9 more	Deletion	not provided	GUncertain significance
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 3158484	NM_198081.5(SCML4):c.1195G>A (p.Ala399Thr)	SCML4 (A341T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610107	NM_198081.5(SCML4):c.1171T>C (p.Tyr391His)	SCML4 (Y149H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544936	NM_198081.5(SCML4):c.1156G>T (p.Asp386Tyr)	SCML4 (D328Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207011	NM_198081.5(SCML4):c.1124T>C (p.Ile375Thr)	SCML4 (I133T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710965	NM_198081.5(SCML4):c.1056G>A (p.Val352=)	SCML4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2468114	NM_198081.5(SCML4):c.1010G>A (p.Arg337Gln)	SCML4 (R337Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787307	NM_198081.5(SCML4):c.995C>T (p.Ala332Val)	SCML4 (A274V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2555757	NM_198081.5(SCML4):c.947C>T (p.Thr316Met)	SCML4 (T316M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458557	NM_198081.5(SCML4):c.871C>T (p.Arg291Cys)	SCML4 (R233C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316492	NM_198081.5(SCML4):c.812G>C (p.Arg271Thr)	SCML4 (R271T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158488	NM_198081.5(SCML4):c.779C>T (p.Ser260Phe)	SCML4 (S260F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316491	NM_198081.5(SCML4):c.740G>A (p.Ser247Asn)	SCML4 (S5N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214336	NM_198081.5(SCML4):c.655G>A (p.Glu219Lys)	SCML4 (E161K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158487	NM_198081.5(SCML4):c.547G>A (p.Gly183Ser)	SCML4 (G125S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390755	NM_198081.5(SCML4):c.463G>A (p.Gly155Ser)	SCML4 (G97S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391843	NM_198081.5(SCML4):c.452T>A (p.Leu151Gln)	SCML4 (L151Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485451	NM_198081.5(SCML4):c.427C>T (p.His143Tyr)	SCML4 (H85Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263039	NM_198081.5(SCML4):c.365T>G (p.Phe122Cys)	SCML4 (F64C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273106	NM_198081.5(SCML4):c.223C>G (p.Leu75Val)	SCML4 (L75V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158486	NM_198081.5(SCML4):c.209C>T (p.Thr70Ile)	SCML4 (T12I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158485	NM_198081.5(SCML4):c.159C>G (p.Ile53Met)	SCML4 (I53M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2392649	NM_198081.5(SCML4):c.56C>T (p.Thr19Met)	SCML4 (T19M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539563	NM_198081.5(SCML4):c.20C>G (p.Pro7Arg)	SCML4 (P7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348590	NM_198081.5(SCML4):c.20C>T (p.Pro7Leu)	SCML4 (P7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062920	GRCh37/hg19 6q21(chr6:107876812-109065741)x3	AFG1L, FOXO3 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2425984	NC_000006.11:g.(?_107019871)_(110266416_?)del	AFG1L, AK9 +21 more	Deletion	not provided	GUncertain significance
Select item 1527275	GRCh37/hg19 6q21(chr6:107446437-108543388)	NR2E1, OSTM1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	FBXL4, WASF1 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 1047881	GRCh37/hg19 6q21(chr6:107331934-108121759)	BEND3, MTRES1 +3 more	Copy number loss	Autism	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	AFG1L, AK9 +66 more	Copy number loss	Deletion 6q16 q21	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 685511	GRCh37/hg19 6q21(chr6:107925558-108220556)x3	SCML4, SEC63 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563216	GRCh37/hg19 6q21(chr6:107947938-108184564)x1	SOBP, SCML4	Copy number loss	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	AFG1L, AK9 +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic
Select item 441796	GRCh37/hg19 6q21(chr6:107662992-108276358)x3	PDSS2, SCML4 +2 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Items: 51