ClinVar for Gene (Select 64393) - ClinVar

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

Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3193708	NM_022470.4(ZMAT3):c.229G>A (p.Val77Ile)	ZMAT3 (V77I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193707	NM_022470.4(ZMAT3):c.194A>C (p.Glu65Ala)	ZMAT3 (E65A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062685	GRCh37/hg19 3q26.32(chr3:178540352-178991786)x1	KCNMB2, KCNMB3 +2 more	Copy number loss	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2602499	NM_022470.4(ZMAT3):c.832C>T (p.Arg278Trp)	ZMAT3 (R277W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597279	NM_022470.4(ZMAT3):c.815G>A (p.Ser272Asn)	ZMAT3 (S271N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533597	NM_022470.4(ZMAT3):c.431C>T (p.Thr144Met)	ZMAT3 (T144M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532958	NM_022470.4(ZMAT3):c.305A>G (p.Tyr102Cys)	ZMAT3 (Y102C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522917	NM_022470.4(ZMAT3):c.112C>G (p.Pro38Ala)	ZMAT3 (P38A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396619	NM_022470.4(ZMAT3):c.208C>A (p.Leu70Met)	ZMAT3 (L70M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387500	NM_022470.4(ZMAT3):c.386C>T (p.Pro129Leu)	ZMAT3 (P129L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358357	NM_022470.4(ZMAT3):c.685C>T (p.Arg229Trp)	ZMAT3 (R228W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339856	NM_022470.4(ZMAT3):c.22G>A (p.Val8Met)	ZMAT3 (V8M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327804	NM_022470.4(ZMAT3):c.181T>A (p.Cys61Ser)	ZMAT3 (C61S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2272932	NM_022470.4(ZMAT3):c.604G>A (p.Glu202Lys)	ZMAT3 (E202K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270498	NM_022470.4(ZMAT3):c.842A>G (p.Asn281Ser)	ZMAT3 (N280S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2246966	NM_022470.4(ZMAT3):c.617T>A (p.Met206Lys)	ZMAT3 (M206K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239386	NM_022470.4(ZMAT3):c.833G>A (p.Arg278Gln)	ZMAT3 (R278Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807613	GRCh37/hg19 3q26.32(chr3:178755126-178842215)x1	ZMAT3	Copy number loss	not provided	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 161760	NM_022470.4(ZMAT3):c.182G>A (p.Cys61Tyr)	ZMAT3 (C61Y)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 155645	GRCh38/hg38 3q26.32-26.33(chr3:178391683-179786092)x3	ACTL6A, GNB4 +51 more	Copy number gain	See cases	GLikely benign
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 44