21387[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	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 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 2243115	NM_153362.3(PRSS35):c.34A>G (p.Thr12Ala)	PRSS35 (T12A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481140	NM_153362.3(PRSS35):c.82A>T (p.Met28Leu)	PRSS35 (M28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601274	NM_153362.3(PRSS35):c.100G>T (p.Val34Leu)	PRSS35 (V34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409551	NM_153362.3(PRSS35):c.104C>G (p.Pro35Arg)	PRSS35 (P35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219848	NM_153362.3(PRSS35):c.118G>C (p.Glu40Gln)	PRSS35 (E40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219849	NM_153362.3(PRSS35):c.123G>T (p.Arg41Ser)	PRSS35 (R41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233545	NM_153362.3(PRSS35):c.140G>A (p.Ser47Asn)	PRSS35 (S47N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728225	NM_153362.3(PRSS35):c.192C>A (p.Ile64=)	PRSS35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3219850	NM_153362.3(PRSS35):c.193G>A (p.Glu65Lys)	PRSS35 (E65K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536305	NM_153362.3(PRSS35):c.200A>G (p.Gln67Arg)	PRSS35 (Q67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544823	NM_153362.3(PRSS35):c.431T>A (p.Phe144Tyr)	PRSS35 (F144Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207010	NM_153362.3(PRSS35):c.500C>T (p.Ala167Val)	PRSS35 (A167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219851	NM_153362.3(PRSS35):c.628G>A (p.Ala210Thr)	PRSS35 (A210T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2483512	NM_153362.3(PRSS35):c.753G>C (p.Trp251Cys)	PRSS35 (W251C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219852	NM_153362.3(PRSS35):c.758G>A (p.Arg253Gln)	PRSS35 (R253Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720305	NM_153362.3(PRSS35):c.825T>C (p.Tyr275=)	PRSS35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3310690	NM_153362.3(PRSS35):c.850C>T (p.Arg284Cys)	PRSS35 (R284C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219853	NM_153362.3(PRSS35):c.961G>T (p.Val321Phe)	PRSS35 (V321F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785175	NM_153362.3(PRSS35):c.1014C>T (p.Tyr338=)	PRSS35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3219847	NM_153362.3(PRSS35):c.1099A>G (p.Ile367Val)	PRSS35 (I367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730509	NM_153362.3(PRSS35):c.1176T>C (p.Thr392=)	PRSS35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2390724	NM_153362.3(PRSS35):c.1231G>T (p.Ala411Ser)	PRSS35 (A411S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062931	GRCh37/hg19 6q14.2(chr6:83982285-84276653)x3	ME1, PRSS35 +1 more	Copy number gain	not specified	GUncertain significance
Select item 2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	CEP162, CYB5R4 +18 more	Copy number loss	See cases	GPathogenic
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527257	GRCh37/hg19 6q14.1-14.2(chr6:83788069-84228464)	DOP1A, ME1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1340905	GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1	CEP162, CGA +20 more	Copy number loss	not provided	GPathogenic
Select item 1003195	NC_000006.11:g.(?_83878953)_(84567108_?)dup	ME1, PGM3 +4 more	Duplication	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	BCKDHB, CD109 +40 more	Copy number loss	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	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 224831	Single allele	SNAP91, PGM3 +6 more	Deletion	Immunodeficiency 23	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38